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Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome

Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a con...

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Principais autores: Ivana Joksic, Mina Toljic, Nela Maksimovic, Dijana Perovic, Tatjana Damnjanovic, Aleksandar Jurisic
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2025-01-01
coleção:Taiwanese Journal of Obstetrics & Gynecology
Assuntos:
Chromothripisis
Complex chromosomal rearrangement
Prenatal diagnosis
Saethre-Chotzen syndrome
TWIST1
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S1028455924002900
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