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Case Reports
. 1978 Sep;21(3):189-92.

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

[Article in French]
C Turleau, J Séger, J de Grouchy, F Doré, J C Job
  • PMID: 315197
Case Reports

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

[Article in French]
C Turleau et al. Ann Genet. 1978 Sep.

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.

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