| Literature DB >> 3499848 |
H Rivera1, L Garcia-Esquivel, M Moller, J M Cantú.
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.Entities:
Mesh：
Year: 1987 PMID： 3499848
Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995