Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial p...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Cirillo, Emilia [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014 |
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© Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( |
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| Übergeordnetes Werk: |
Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 15(2014), 1 vom: 02. Jan. |
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| Übergeordnetes Werk: |
volume:15 ; year:2014 ; number:1 ; day:02 ; month:01 |
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| DOI / URN: |
10.1186/1471-2350-15-1 |
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SPR027492680 |
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| 520 | |a Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. | ||
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| 650 | 4 | |a DiGeorge syndrome |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Immunodeficiency |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Phenotypic variability |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Giardino, Giuliana |4 aut | |
| 700 | 1 | |a Gallo, Vera |4 aut | |
| 700 | 1 | |a Puliafito, Pamela |4 aut | |
| 700 | 1 | |a Azzari, Chiara |4 aut | |
| 700 | 1 | |a Bacchetta, Rosa |4 aut | |
| 700 | 1 | |a Cardinale, Fabio |4 aut | |
| 700 | 1 | |a Cicalese, Maria Pia |4 aut | |
| 700 | 1 | |a Consolini, Rita |4 aut | |
| 700 | 1 | |a Martino, Silvana |4 aut | |
| 700 | 1 | |a Martire, Baldassarre |4 aut | |
| 700 | 1 | |a Molinatto, Cristina |4 aut | |
| 700 | 1 | |a Plebani, Alessandro |4 aut | |
| 700 | 1 | |a Scarano, Gioacchino |4 aut | |
| 700 | 1 | |a Soresina, Annarosa |4 aut | |
| 700 | 1 | |a Cancrini, Caterina |4 aut | |
| 700 | 1 | |a Rossi, Paolo |4 aut | |
| 700 | 1 | |a Digilio, Maria Cristina |4 aut | |
| 700 | 1 | |a Pignata, Claudio |4 aut | |
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10.1186/1471-2350-15-1 doi (DE-627)SPR027492680 (SPR)1471-2350-15-1-e DE-627 ger DE-627 rakwb eng Cirillo, Emilia verfasserin aut Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. 22q11.2 deletion syndrome (dpeaa)DE-He213 DiGeorge syndrome (dpeaa)DE-He213 Immunodeficiency (dpeaa)DE-He213 Phenotypic variability (dpeaa)DE-He213 Giardino, Giuliana aut Gallo, Vera aut Puliafito, Pamela aut Azzari, Chiara aut Bacchetta, Rosa aut Cardinale, Fabio aut Cicalese, Maria Pia aut Consolini, Rita aut Martino, Silvana aut Martire, Baldassarre aut Molinatto, Cristina aut Plebani, Alessandro aut Scarano, Gioacchino aut Soresina, Annarosa aut Cancrini, Caterina aut Rossi, Paolo aut Digilio, Maria Cristina aut Pignata, Claudio aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 02. Jan. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:02 month:01 https://dx.doi.org/10.1186/1471-2350-15-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2014 1 02 01 |
| spelling |
10.1186/1471-2350-15-1 doi (DE-627)SPR027492680 (SPR)1471-2350-15-1-e DE-627 ger DE-627 rakwb eng Cirillo, Emilia verfasserin aut Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. 22q11.2 deletion syndrome (dpeaa)DE-He213 DiGeorge syndrome (dpeaa)DE-He213 Immunodeficiency (dpeaa)DE-He213 Phenotypic variability (dpeaa)DE-He213 Giardino, Giuliana aut Gallo, Vera aut Puliafito, Pamela aut Azzari, Chiara aut Bacchetta, Rosa aut Cardinale, Fabio aut Cicalese, Maria Pia aut Consolini, Rita aut Martino, Silvana aut Martire, Baldassarre aut Molinatto, Cristina aut Plebani, Alessandro aut Scarano, Gioacchino aut Soresina, Annarosa aut Cancrini, Caterina aut Rossi, Paolo aut Digilio, Maria Cristina aut Pignata, Claudio aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 02. Jan. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:02 month:01 https://dx.doi.org/10.1186/1471-2350-15-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2014 1 02 01 |
| allfields_unstemmed |
10.1186/1471-2350-15-1 doi (DE-627)SPR027492680 (SPR)1471-2350-15-1-e DE-627 ger DE-627 rakwb eng Cirillo, Emilia verfasserin aut Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. 22q11.2 deletion syndrome (dpeaa)DE-He213 DiGeorge syndrome (dpeaa)DE-He213 Immunodeficiency (dpeaa)DE-He213 Phenotypic variability (dpeaa)DE-He213 Giardino, Giuliana aut Gallo, Vera aut Puliafito, Pamela aut Azzari, Chiara aut Bacchetta, Rosa aut Cardinale, Fabio aut Cicalese, Maria Pia aut Consolini, Rita aut Martino, Silvana aut Martire, Baldassarre aut Molinatto, Cristina aut Plebani, Alessandro aut Scarano, Gioacchino aut Soresina, Annarosa aut Cancrini, Caterina aut Rossi, Paolo aut Digilio, Maria Cristina aut Pignata, Claudio aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 02. Jan. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:02 month:01 https://dx.doi.org/10.1186/1471-2350-15-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2014 1 02 01 |
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10.1186/1471-2350-15-1 doi (DE-627)SPR027492680 (SPR)1471-2350-15-1-e DE-627 ger DE-627 rakwb eng Cirillo, Emilia verfasserin aut Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. 22q11.2 deletion syndrome (dpeaa)DE-He213 DiGeorge syndrome (dpeaa)DE-He213 Immunodeficiency (dpeaa)DE-He213 Phenotypic variability (dpeaa)DE-He213 Giardino, Giuliana aut Gallo, Vera aut Puliafito, Pamela aut Azzari, Chiara aut Bacchetta, Rosa aut Cardinale, Fabio aut Cicalese, Maria Pia aut Consolini, Rita aut Martino, Silvana aut Martire, Baldassarre aut Molinatto, Cristina aut Plebani, Alessandro aut Scarano, Gioacchino aut Soresina, Annarosa aut Cancrini, Caterina aut Rossi, Paolo aut Digilio, Maria Cristina aut Pignata, Claudio aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 02. Jan. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:02 month:01 https://dx.doi.org/10.1186/1471-2350-15-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2014 1 02 01 |
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10.1186/1471-2350-15-1 doi (DE-627)SPR027492680 (SPR)1471-2350-15-1-e DE-627 ger DE-627 rakwb eng Cirillo, Emilia verfasserin aut Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. 22q11.2 deletion syndrome (dpeaa)DE-He213 DiGeorge syndrome (dpeaa)DE-He213 Immunodeficiency (dpeaa)DE-He213 Phenotypic variability (dpeaa)DE-He213 Giardino, Giuliana aut Gallo, Vera aut Puliafito, Pamela aut Azzari, Chiara aut Bacchetta, Rosa aut Cardinale, Fabio aut Cicalese, Maria Pia aut Consolini, Rita aut Martino, Silvana aut Martire, Baldassarre aut Molinatto, Cristina aut Plebani, Alessandro aut Scarano, Gioacchino aut Soresina, Annarosa aut Cancrini, Caterina aut Rossi, Paolo aut Digilio, Maria Cristina aut Pignata, Claudio aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 02. Jan. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:02 month:01 https://dx.doi.org/10.1186/1471-2350-15-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2014 1 02 01 |
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Cirillo, Emilia @@aut@@ Giardino, Giuliana @@aut@@ Gallo, Vera @@aut@@ Puliafito, Pamela @@aut@@ Azzari, Chiara @@aut@@ Bacchetta, Rosa @@aut@@ Cardinale, Fabio @@aut@@ Cicalese, Maria Pia @@aut@@ Consolini, Rita @@aut@@ Martino, Silvana @@aut@@ Martire, Baldassarre @@aut@@ Molinatto, Cristina @@aut@@ Plebani, Alessandro @@aut@@ Scarano, Gioacchino @@aut@@ Soresina, Annarosa @@aut@@ Cancrini, Caterina @@aut@@ Rossi, Paolo @@aut@@ Digilio, Maria Cristina @@aut@@ Pignata, Claudio @@aut@@ |
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Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. 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Cirillo, Emilia |
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Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects 22q11.2 deletion syndrome (dpeaa)DE-He213 DiGeorge syndrome (dpeaa)DE-He213 Immunodeficiency (dpeaa)DE-He213 Phenotypic variability (dpeaa)DE-He213 |
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Cirillo, Emilia Giardino, Giuliana Gallo, Vera Puliafito, Pamela Azzari, Chiara Bacchetta, Rosa Cardinale, Fabio Cicalese, Maria Pia Consolini, Rita Martino, Silvana Martire, Baldassarre Molinatto, Cristina Plebani, Alessandro Scarano, Gioacchino Soresina, Annarosa Cancrini, Caterina Rossi, Paolo Digilio, Maria Cristina Pignata, Claudio |
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intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects |
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Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects |
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Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( |
| abstractGer |
Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( |
| abstract_unstemmed |
Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability. Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. © Cirillo et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License ( |
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Giardino, Giuliana Gallo, Vera Puliafito, Pamela Azzari, Chiara Bacchetta, Rosa Cardinale, Fabio Cicalese, Maria Pia Consolini, Rita Martino, Silvana Martire, Baldassarre Molinatto, Cristina Plebani, Alessandro Scarano, Gioacchino Soresina, Annarosa Cancrini, Caterina Rossi, Paolo Digilio, Maria Cristina Pignata, Claudio |
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