Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi.

Abstract:

:We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid. Cytogenetic tests were repeated because of a short corpus callosum on ultrasound examination. This 18q-syndrome has been reported to be associated with poor neurodevelopmental outcome.

journal_name

Fetal Diagn Ther

authors

Anselem O,Bazin A,Mechler C,Blin G,Garel C,Aboura A,Moutard ML,Mandelbrot L

doi

10.1159/000317012

subject

Has Abstract

pub_date

2010-01-01 00:00:00

pages

180-5

issue

3

eissn

1015-3837

issn

1421-9964

pii

000317012

journal_volume

28

pub_type

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