Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern

Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary pa...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Telma Luís [verfasserIn] Cristina Candeias [verfasserIn] Sara Domingues [verfasserIn] Natália Oliva-Teles [verfasserIn] Céu Mota [verfasserIn] Cláudia Falcão Reis [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Tetrasomy 18 Mosaicism Prenatal

Übergeordnetes Werk:	In: Taiwanese Journal of Obstetrics & Gynecology - Elsevier, 2017, 61(2022), 1, Seite 150-152
Übergeordnetes Werk:	volume:61 ; year:2022 ; number:1 ; pages:150-152

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1016/j.tjog.2021.11.026

Katalog-ID:	DOAJ060004894

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520			\|a Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development. Conclusion: To the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies.
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spelling	10.1016/j.tjog.2021.11.026 doi (DE-627)DOAJ060004894 (DE-599)DOAJ9939018d3faf47e09019fa730a20d29f DE-627 ger DE-627 rakwb eng RG1-991 Telma Luís verfasserin aut Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development. Conclusion: To the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies. Tetrasomy 18 Mosaicism Prenatal Gynecology and obstetrics Cristina Candeias verfasserin aut Sara Domingues verfasserin aut Natália Oliva-Teles verfasserin aut Céu Mota verfasserin aut Cláudia Falcão Reis verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 61(2022), 1, Seite 150-152 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:61 year:2022 number:1 pages:150-152 https://doi.org/10.1016/j.tjog.2021.11.026 kostenfrei https://doaj.org/article/9939018d3faf47e09019fa730a20d29f kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455921003302 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_647 GBV_ILN_2014 GBV_ILN_2068 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 61 2022 1 150-152
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allfieldsGer	10.1016/j.tjog.2021.11.026 doi (DE-627)DOAJ060004894 (DE-599)DOAJ9939018d3faf47e09019fa730a20d29f DE-627 ger DE-627 rakwb eng RG1-991 Telma Luís verfasserin aut Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development. Conclusion: To the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies. Tetrasomy 18 Mosaicism Prenatal Gynecology and obstetrics Cristina Candeias verfasserin aut Sara Domingues verfasserin aut Natália Oliva-Teles verfasserin aut Céu Mota verfasserin aut Cláudia Falcão Reis verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 61(2022), 1, Seite 150-152 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:61 year:2022 number:1 pages:150-152 https://doi.org/10.1016/j.tjog.2021.11.026 kostenfrei https://doaj.org/article/9939018d3faf47e09019fa730a20d29f kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455921003302 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_647 GBV_ILN_2014 GBV_ILN_2068 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 61 2022 1 150-152
allfieldsSound	10.1016/j.tjog.2021.11.026 doi (DE-627)DOAJ060004894 (DE-599)DOAJ9939018d3faf47e09019fa730a20d29f DE-627 ger DE-627 rakwb eng RG1-991 Telma Luís verfasserin aut Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development. Conclusion: To the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies. Tetrasomy 18 Mosaicism Prenatal Gynecology and obstetrics Cristina Candeias verfasserin aut Sara Domingues verfasserin aut Natália Oliva-Teles verfasserin aut Céu Mota verfasserin aut Cláudia Falcão Reis verfasserin aut In Taiwanese Journal of Obstetrics & Gynecology Elsevier, 2017 61(2022), 1, Seite 150-152 (DE-627)500021422 (DE-600)2202946-1 10284559 nnns volume:61 year:2022 number:1 pages:150-152 https://doi.org/10.1016/j.tjog.2021.11.026 kostenfrei https://doaj.org/article/9939018d3faf47e09019fa730a20d29f kostenfrei http://www.sciencedirect.com/science/article/pii/S1028455921003302 kostenfrei https://doaj.org/toc/1028-4559 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_647 GBV_ILN_2014 GBV_ILN_2068 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 61 2022 1 150-152
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source	In Taiwanese Journal of Obstetrics & Gynecology 61(2022), 1, Seite 150-152 volume:61 year:2022 number:1 pages:150-152
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authorswithroles_txt_mv	Telma Luís @@aut@@ Cristina Candeias @@aut@@ Sara Domingues @@aut@@ Natália Oliva-Teles @@aut@@ Céu Mota @@aut@@ Cláudia Falcão Reis @@aut@@
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callnumber-first	R - Medicine
author	Telma Luís
spellingShingle	Telma Luís misc RG1-991 misc Tetrasomy 18 misc Mosaicism misc Prenatal misc Gynecology and obstetrics Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern
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topic_title	RG1-991 Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern Tetrasomy 18 Mosaicism Prenatal
topic	misc RG1-991 misc Tetrasomy 18 misc Mosaicism misc Prenatal misc Gynecology and obstetrics
topic_unstemmed	misc RG1-991 misc Tetrasomy 18 misc Mosaicism misc Prenatal misc Gynecology and obstetrics
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title	Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern
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title_full	Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern
author_sort	Telma Luís
journal	Taiwanese Journal of Obstetrics & Gynecology
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author_browse	Telma Luís Cristina Candeias Sara Domingues Natália Oliva-Teles Céu Mota Cláudia Falcão Reis
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title_sort	partial tetrasomy 18 mosaicism: pre and postnatal diagnosis of a unique pattern
callnumber	RG1-991
title_auth	Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern
abstract	Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development. Conclusion: To the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies.
abstractGer	Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development. Conclusion: To the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies.
abstract_unstemmed	Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development. Conclusion: To the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies.
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title_short	Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern
url	https://doi.org/10.1016/j.tjog.2021.11.026 https://doaj.org/article/9939018d3faf47e09019fa730a20d29f http://www.sciencedirect.com/science/article/pii/S1028455921003302 https://doaj.org/toc/1028-4559
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author2	Cristina Candeias Sara Domingues Natália Oliva-Teles Céu Mota Cláudia Falcão Reis
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up_date	2024-07-04T01:42:17.118Z
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