Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson M P, Aubry J P, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M
Département de Génétique, Hôpital Necker Enfants Malades, Paris, France.
Prenat Diagn. 1999 Jan;19(1):49-53.
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.
报道了1p36缺失的产前诊断。该孕妇在妊娠24周时因超声检查发现多种畸形而确诊，这些畸形包括眼距过窄、中度脑室扩张以及埃布斯坦畸形并继发心力衰竭。经过细胞遗传学研究和咨询后，终止了妊娠并进行了胎儿尸检。将这例产前诊断病例的表型与先前报道的44例具有相同1p36染色体短臂缺失病例的临床特征进行了比较。
