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Case Reports
. 1987;30(2):91-3.

Constitutional del(5)(q23.3q31.1)

H Rivera  1 , L Garcia-Esquivel, M Moller, J M Cantú
Affiliations
  • PMID: 3499848
Case Reports

Constitutional del(5)(q23.3q31.1)

H Rivera et al. Ann Genet. 1987.

Abstract

A 4-month-old male infant with muscular hypotonia, growth and psychomotor retardation, large low-set ears, hypoplastic genitalia, right hip luxation and bilateral equinovarus, was found to have a constitutional 46,XY,del(5)(q23.3q31.1) karyotype. From the comparison with 12 similar cases, a rather characteristic clinical phenotype emerges.

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