Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son

J P Fryns; A Kleczkowska; A M Dereymaeker; H Van den Berghe

Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son

Helv Paediatr Acta. 1988 Aug;43(1-2):87-90.

Authors

J P Fryns¹, A Kleczkowska, A M Dereymaeker, H Van den Berghe

Affiliation

¹ Center for Human Genetics, Leuven, Belgium.

PMID: 3170249

Abstract

In the present report we describe a 98/12-year-old male with Noonan phenotype, moderate mental retardation and 46,XY, der(8), t(Y;8)(q12;q24) karyotype. Further examination of the family revealed that the boy inherited the Noonan features from his mother and the Y/8 translocation from his moderately mentally handicapped father.

Publication types

Case Reports

MeSH terms

Child
Chromosomes, Human, Pair 8*
Genetic Carrier Screening
Humans
Intellectual Disability / genetics*
Karyotyping
Male
Noonan Syndrome / genetics*
Phenotype
Translocation, Genetic
Y Chromosome*