Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical featu...
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Gespeichert in:

Autor*in:	Halder, Ashutosh [verfasserIn] Jain, Manish Kabra, Madhulika Gupta, Neerja

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2008

Schlagwörter:	Multiplex Ligation Dependent Probe Amplification Craniosynostosis Facial Dysmorphism Buccal Cell Quantitative Fluorescent Polymerase Chain Reaction

Anmerkung:	© Halder et al; licensee BioMed Central Ltd. 2008

Übergeordnetes Werk:	Enthalten in: Molecular cytogenetics - London : BioMed Central, 2008, 1(2008), 1 vom: 10. Aug.
Übergeordnetes Werk:	volume:1 ; year:2008 ; number:1 ; day:10 ; month:08

Links:	Volltext

DOI / URN:	10.1186/1755-8166-1-18

Katalog-ID:	SPR029575486

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520			\|a Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.
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allfields	10.1186/1755-8166-1-18 doi (DE-627)SPR029575486 (SPR)1755-8166-1-18-e DE-627 ger DE-627 rakwb eng Halder, Ashutosh verfasserin aut Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Halder et al; licensee BioMed Central Ltd. 2008 Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. Multiplex Ligation Dependent Probe Amplification (dpeaa)DE-He213 Craniosynostosis (dpeaa)DE-He213 Facial Dysmorphism (dpeaa)DE-He213 Buccal Cell (dpeaa)DE-He213 Quantitative Fluorescent Polymerase Chain Reaction (dpeaa)DE-He213 Jain, Manish aut Kabra, Madhulika aut Gupta, Neerja aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 1(2008), 1 vom: 10. Aug. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:1 year:2008 number:1 day:10 month:08 https://dx.doi.org/10.1186/1755-8166-1-18 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_2003 GBV_ILN_2014 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 1 2008 1 10 08
spelling	10.1186/1755-8166-1-18 doi (DE-627)SPR029575486 (SPR)1755-8166-1-18-e DE-627 ger DE-627 rakwb eng Halder, Ashutosh verfasserin aut Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Halder et al; licensee BioMed Central Ltd. 2008 Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. Multiplex Ligation Dependent Probe Amplification (dpeaa)DE-He213 Craniosynostosis (dpeaa)DE-He213 Facial Dysmorphism (dpeaa)DE-He213 Buccal Cell (dpeaa)DE-He213 Quantitative Fluorescent Polymerase Chain Reaction (dpeaa)DE-He213 Jain, Manish aut Kabra, Madhulika aut Gupta, Neerja aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 1(2008), 1 vom: 10. Aug. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:1 year:2008 number:1 day:10 month:08 https://dx.doi.org/10.1186/1755-8166-1-18 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_2003 GBV_ILN_2014 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 1 2008 1 10 08
allfields_unstemmed	10.1186/1755-8166-1-18 doi (DE-627)SPR029575486 (SPR)1755-8166-1-18-e DE-627 ger DE-627 rakwb eng Halder, Ashutosh verfasserin aut Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Halder et al; licensee BioMed Central Ltd. 2008 Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. Multiplex Ligation Dependent Probe Amplification (dpeaa)DE-He213 Craniosynostosis (dpeaa)DE-He213 Facial Dysmorphism (dpeaa)DE-He213 Buccal Cell (dpeaa)DE-He213 Quantitative Fluorescent Polymerase Chain Reaction (dpeaa)DE-He213 Jain, Manish aut Kabra, Madhulika aut Gupta, Neerja aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 1(2008), 1 vom: 10. Aug. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:1 year:2008 number:1 day:10 month:08 https://dx.doi.org/10.1186/1755-8166-1-18 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_2003 GBV_ILN_2014 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 1 2008 1 10 08
allfieldsGer	10.1186/1755-8166-1-18 doi (DE-627)SPR029575486 (SPR)1755-8166-1-18-e DE-627 ger DE-627 rakwb eng Halder, Ashutosh verfasserin aut Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Halder et al; licensee BioMed Central Ltd. 2008 Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. Multiplex Ligation Dependent Probe Amplification (dpeaa)DE-He213 Craniosynostosis (dpeaa)DE-He213 Facial Dysmorphism (dpeaa)DE-He213 Buccal Cell (dpeaa)DE-He213 Quantitative Fluorescent Polymerase Chain Reaction (dpeaa)DE-He213 Jain, Manish aut Kabra, Madhulika aut Gupta, Neerja aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 1(2008), 1 vom: 10. Aug. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:1 year:2008 number:1 day:10 month:08 https://dx.doi.org/10.1186/1755-8166-1-18 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_2003 GBV_ILN_2014 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 1 2008 1 10 08
allfieldsSound	10.1186/1755-8166-1-18 doi (DE-627)SPR029575486 (SPR)1755-8166-1-18-e DE-627 ger DE-627 rakwb eng Halder, Ashutosh verfasserin aut Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Halder et al; licensee BioMed Central Ltd. 2008 Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. Multiplex Ligation Dependent Probe Amplification (dpeaa)DE-He213 Craniosynostosis (dpeaa)DE-He213 Facial Dysmorphism (dpeaa)DE-He213 Buccal Cell (dpeaa)DE-He213 Quantitative Fluorescent Polymerase Chain Reaction (dpeaa)DE-He213 Jain, Manish aut Kabra, Madhulika aut Gupta, Neerja aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 1(2008), 1 vom: 10. Aug. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:1 year:2008 number:1 day:10 month:08 https://dx.doi.org/10.1186/1755-8166-1-18 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_2003 GBV_ILN_2014 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 1 2008 1 10 08
language	English
source	Enthalten in Molecular cytogenetics 1(2008), 1 vom: 10. Aug. volume:1 year:2008 number:1 day:10 month:08
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institution	findex.gbv.de
topic_facet	Multiplex Ligation Dependent Probe Amplification Craniosynostosis Facial Dysmorphism Buccal Cell Quantitative Fluorescent Polymerase Chain Reaction
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author	Halder, Ashutosh
spellingShingle	Halder, Ashutosh misc Multiplex Ligation Dependent Probe Amplification misc Craniosynostosis misc Facial Dysmorphism misc Buccal Cell misc Quantitative Fluorescent Polymerase Chain Reaction Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
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topic_title	Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases Multiplex Ligation Dependent Probe Amplification (dpeaa)DE-He213 Craniosynostosis (dpeaa)DE-He213 Facial Dysmorphism (dpeaa)DE-He213 Buccal Cell (dpeaa)DE-He213 Quantitative Fluorescent Polymerase Chain Reaction (dpeaa)DE-He213
topic	misc Multiplex Ligation Dependent Probe Amplification misc Craniosynostosis misc Facial Dysmorphism misc Buccal Cell misc Quantitative Fluorescent Polymerase Chain Reaction
topic_unstemmed	misc Multiplex Ligation Dependent Probe Amplification misc Craniosynostosis misc Facial Dysmorphism misc Buccal Cell misc Quantitative Fluorescent Polymerase Chain Reaction
topic_browse	misc Multiplex Ligation Dependent Probe Amplification misc Craniosynostosis misc Facial Dysmorphism misc Buccal Cell misc Quantitative Fluorescent Polymerase Chain Reaction
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title	Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
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title_full	Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
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title_sort	mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
title_auth	Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
abstract	Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. © Halder et al; licensee BioMed Central Ltd. 2008
abstractGer	Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. © Halder et al; licensee BioMed Central Ltd. 2008
abstract_unstemmed	Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome. © Halder et al; licensee BioMed Central Ltd. 2008
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title_short	Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
url	https://dx.doi.org/10.1186/1755-8166-1-18
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up_date	2024-07-04T01:32:37.854Z
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Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

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