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Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

✍ Scribed by L. Faivre; N. Morichon-Delvallez; G. Viot; J. Martinovic; M. P. Pinson; J. P. Aubry; V. Raclin; P. Edery; Y. Dumez; A. Munnich; M. Vekemans

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
208 KB
Volume
19
Category
Article
ISSN
0197-3851

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✦ Synopsis

The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and Ebstein anomaly with secondary cardiac failure. Following cytogenetic studies and counselling, the pregnancy was terminated and a fetal autopsy performed. The phenotype of this antenatallydiagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36.

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