Clin Genet. 1992 Jan;41(1):25-7.

Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature.

Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D.

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Department of Pediatrics and Medical Genetics, University of Montpelier, Hôpital Saint Charles, France.

Abstract

We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.

PMID:: 1633642; [PubMed - indexed for MEDLINE]

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Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature.

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