A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation (2:2) of a balanced chromosomal translocation in...

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Auteurs principaux: Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin
Format: Artigo
Langue:Inglês
Publié: "Paediatrician" Publishers LLC 2016-08-01
Collection:Voprosy Sovremennoj Pediatrii
Sujets:
congenital malformations
developmental delay
chromosomal abnormalities
chromosomal microarray analysis
Accès en ligne:https://vsp.spr-journal.ru/jour/article/view/1643
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