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PMID: 290816 Published · ppublish English Case Reports Journal Article

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

Journal of medical genetics ·Vol. 16 ·No. 4 ·1979-08-00 ·Pages 254-62

Bernstein R, Dawson B, Kohl R, Jenkins T

Abstract

Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.

MeSH Terms
Abnormalities, Multiple/complications,genetics Child, Preschool Chromosome Aberrations/genetics Chromosome Banding Chromosome Disorders Chromosome Mapping Chromosomes, Human, 13-15/ultrastructure Female Genetic Markers Hexosaminidases/genetics Humans Intellectual Disability/complications,genetics Karyotyping Sex Chromosomes/ultrastructure Translocation, Genetic X Chromosome/ultrastructure
Chemicals
Genetic Markers Hexosaminidases
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Bernstein R
Dawson B
Kohl R
Jenkins T
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24 references, click to expand
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.16.4.254
Published
1979-08-00
Pages
254-62
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1012665
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.16.4.254 PMC Full Text View journal details
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