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Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
Author(s) -
Faivre L.,
MorichonDelvallez N.,
Viot G.,
Martinovic J.,
Pinson M. P.,
Aubry J. P.,
Raclin V.,
Edery P.,
Dumez Y.,
Munnich A.,
Vekemans M.
Publication year - 1999
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/(sici)1097-0223(199901)19:1<49::aid-pd450>3.0.co;2-c
Subject(s) - fetus , autopsy , medicine , prenatal diagnosis , pregnancy , gestation , congenital malformations , prenatal ultrasound , obstetrics , pathology , biology , genetics
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 antenatally‐diagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36. Copyright © 1999 John Wiley & Sons, Ltd.