Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus

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• 作者：Valé ; rie Kremer^a ; ^{valerie.kremer@chru-strasbourg.fr} ; Franç ; oise Girard^a ; Bernard Gasser^b ; Luc Marcellin^c ; Dominique Christmann^d ; Israë ; l Nisand^e ; Evelyne Schmitt^a ; Sylvie Florent^a ; Elisabeth Flori^a
• 关键词：Array CGH ; Microdeletion ; IGF1 gene ; Prenatal diagnosis
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 期刊代码：118_17697212
• 类别：med
• 出版时间：April, 2012
• 卷：55
• 期：4
• 页码：269-273
• 文件大小：326 K

摘要

We report the prenatal diagnosis of a 12q22q23.2 de novo interstitial deletion performed by array based comparative genomic hybridization (array CGH) in a fetus with cystic hygroma colli, intrauterine growth retardation, microcephaly and micrognathism.

Haploinsufficiency for insuline-like growth factor 1 gene (IGF1), which is mapped in the deleted region, is suggested because of its implication in prenatal and postnatal growth and in neuronal maturation.

This case demonstrates the contribution of array CGH in prenatal diagnosis for detecting small unbalanced chromosomal abnormalities in malformed fetuses and, subsequently, for genetic counselling.