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Eur J Pediatr. 1980 May;133(3):293-6.

Male infant with cat cry syndrome and apparent absence of the Y chromosome.

Abstract

We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome. The karyotype is interpreted as 45,X,del(5)(qter leads to p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.

PMID:
7389744
[PubMed - indexed for MEDLINE]
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