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Eur J Med Genet. 2012 Apr;55(4):269-73. doi: 10.1016/j.ejmg.2012.02.001. Epub 2012 Feb 23.

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

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1
Service de Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. valerie.kremer@chru-strasbourg.fr

Abstract

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.

PMID:
22425634
DOI:
10.1016/j.ejmg.2012.02.001
[Indexed for MEDLINE]
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