Premium
Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy‐Walker malformation
Author(s) -
Bureau Y.A.,
Fraser W.,
Fouquet B.
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130202
Subject(s) - trisomy , dandy–walker syndrome , prenatal diagnosis , medicine , trisomy 8 , anatomy , fetus , karyotype , biology , pregnancy , hydrocephalus , genetics , chromosome , surgery , gene
Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy‐Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy‐Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.