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Ann Genet. 1978 Sep;21(3):189-92.

[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].

[Article in French]

Abstract

A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.

PMID:
315197
[PubMed - indexed for MEDLINE]
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