How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

Objective: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to fa...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Miroslaw Wielgos, Przemyslaw Kosinski, Piotr Jedrzejak, Małgorzata Krajewska-Walasek, Magdalena Bartnik-Glaska, Beata Nowakowska, Aleksandra Jezela-Stanek
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Terminal 21q22 deletion Prenatal diagnosis aCGH Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/6e9d5640b0e040ffab3593fbb4641111
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:6e9d5640b0e040ffab3593fbb4641111
record_format	dspace
spelling	oai:doaj.org-article:6e9d5640b0e040ffab3593fbb46411112021-11-18T04:44:51ZHow does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review1028-455910.1016/j.tjog.2021.09.029https://doaj.org/article/6e9d5640b0e040ffab3593fbb46411112021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1028455921002692https://doaj.org/toc/1028-4559Objective: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to facilitate prenatal guidance by pointing the diagnostic features. Case report: The fetus was diagnosed prenatally, at 21 weeks of gestation, due to ultrasound markers detected in a routine ultrasound scan. Post-mortem dysmorphological assessment has verified the diagnosis. To the best of our knowledge, this is the second report of prenatal presentation of partial monosomy 21q. Conclusion: By giving the detailed phenotype description and presenting a comprehensive literature review on the subject, we delineate its phenotype, which was different from what has been shown in the literature. Specifically, the clinical presentation of aberration within regions 2 and 3 (referring to the term proposed by Lyle et al., in 2009) of 21q22 bands is not characterised by multiple or severe malformations, which matters for prenatal counselling and diagnostics.Miroslaw WielgosPrzemyslaw KosinskiPiotr JedrzejakMałgorzata Krajewska-WalasekMagdalena Bartnik-GlaskaBeata NowakowskaAleksandra Jezela-StanekElsevierarticleTerminal 21q22 deletionPrenatal diagnosisaCGHGynecology and obstetricsRG1-991ENTaiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1121-1125 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Terminal 21q22 deletion Prenatal diagnosis aCGH Gynecology and obstetrics RG1-991
spellingShingle	Terminal 21q22 deletion Prenatal diagnosis aCGH Gynecology and obstetrics RG1-991 Miroslaw Wielgos Przemyslaw Kosinski Piotr Jedrzejak Małgorzata Krajewska-Walasek Magdalena Bartnik-Glaska Beata Nowakowska Aleksandra Jezela-Stanek How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
description	Objective: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to facilitate prenatal guidance by pointing the diagnostic features. Case report: The fetus was diagnosed prenatally, at 21 weeks of gestation, due to ultrasound markers detected in a routine ultrasound scan. Post-mortem dysmorphological assessment has verified the diagnosis. To the best of our knowledge, this is the second report of prenatal presentation of partial monosomy 21q. Conclusion: By giving the detailed phenotype description and presenting a comprehensive literature review on the subject, we delineate its phenotype, which was different from what has been shown in the literature. Specifically, the clinical presentation of aberration within regions 2 and 3 (referring to the term proposed by Lyle et al., in 2009) of 21q22 bands is not characterised by multiple or severe malformations, which matters for prenatal counselling and diagnostics.
format	article
author	Miroslaw Wielgos Przemyslaw Kosinski Piotr Jedrzejak Małgorzata Krajewska-Walasek Magdalena Bartnik-Glaska Beata Nowakowska Aleksandra Jezela-Stanek
author_facet	Miroslaw Wielgos Przemyslaw Kosinski Piotr Jedrzejak Małgorzata Krajewska-Walasek Magdalena Bartnik-Glaska Beata Nowakowska Aleksandra Jezela-Stanek
author_sort	Miroslaw Wielgos
title	How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
title_short	How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
title_full	How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
title_fullStr	How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
title_full_unstemmed	How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
title_sort	how does terminal 21q22 deletion really manifest? delineation based on prenatal diagnosis and literature review
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/6e9d5640b0e040ffab3593fbb4641111
work_keys_str_mv	AT miroslawwielgos howdoesterminal21q22deletionreallymanifestdelineationbasedonprenataldiagnosisandliteraturereview AT przemyslawkosinski howdoesterminal21q22deletionreallymanifestdelineationbasedonprenataldiagnosisandliteraturereview AT piotrjedrzejak howdoesterminal21q22deletionreallymanifestdelineationbasedonprenataldiagnosisandliteraturereview AT małgorzatakrajewskawalasek howdoesterminal21q22deletionreallymanifestdelineationbasedonprenataldiagnosisandliteraturereview AT magdalenabartnikglaska howdoesterminal21q22deletionreallymanifestdelineationbasedonprenataldiagnosisandliteraturereview AT beatanowakowska howdoesterminal21q22deletionreallymanifestdelineationbasedonprenataldiagnosisandliteraturereview AT aleksandrajezelastanek howdoesterminal21q22deletionreallymanifestdelineationbasedonprenataldiagnosisandliteraturereview
_version_	1718425045314830336

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

Ejemplares similares