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Ann Genet. 1998;41(4):209-12.

A patient with 13q-syndrome with mild mental retardation and with growth retardation.

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  • 1Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.

Abstract

We report on a patient with deletion 13q33.3-->qter having growth retardation but no severe mental retardation. He was microcephalic and had hypotonia, large, low set ears, depressed nasal bridge, hypertelorism, small chin, high and broad forehead and bilateral simian creases. FISH was carried out using a telomeric probe of chromosome 13. Only one chromosome 13 showed a signal. Whole chromosome 13 probe showed that there was no 13q material on another chromosome. The karyotypes of the parents were normal.

PMID:
9881184
[PubMed - indexed for MEDLINE]
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