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

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

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, 13-15*
  • Esterases / genetics*
  • Growth Disorders / complications
  • Head / abnormalities
  • Humans
  • Hypospadias / genetics
  • Infant
  • Male
  • Microcephaly / complications
  • Psychomotor Disorders / complications

Substances

  • Esterases