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
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 47 (2) , 213-216
- https://doi.org/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.This publication has 4 references indexed in Scilit:
- Phenotypic correlations in patients with ring chromosome 22Clinical Genetics, 1977
- R(22) SYNDROME - REPORT OF 4 NEW CASES1976
- Reexamination of a family with a t(13q14q) and a ring D(13) child.1973
- Monozygotic Twins with Ring Chromosome 22Journal of Medical Genetics, 1973