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Constitutional del(5)(q23.3q31.1)
H Rivera1, L Garcia-Esquivel, M Moller
1División de Genética, Unidad de Investigación Biomédica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Annales De Genetique
|January 1, 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.