Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother

J P Fryns; H Van den Berghe

doi:10.1007/BF00273205

Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother

Hum Genet. 1979 Mar 12;47(2):213-6. doi: 10.1007/BF00273205.

Authors

J P Fryns, H Van den Berghe

PMID: 437787
DOI: 10.1007/BF00273205

Abstract

A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the chromosome(s) 22 in this woman.

Publication types

Case Reports

MeSH terms

Adult
Child
Chromosome Aberrations*
Chromosomes, Human, 13-15
Chromosomes, Human, 21-22 and Y*
Female
Humans
Intellectual Disability / genetics*
Karyotyping
Male
Mosaicism*
Muscle Hypotonia / genetics
Phenotype
Syndrome
Translocation, Genetic