Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.
A 13 year old male with mild mental retardation, obesity, and poor secondary sexual differentiation was found to have a 46,X,+,mar karyotype. In situ hybridisation with X and Y specific probes proved the marker to be composed of Y centromeric and short arm material.
Crolla
J A
JA
Paediatric Research Unit, United Medical School, Guy's Hospital, London.
Smith
M
M
Docherty
Z
Z
D000293:Adolescent; D002503:Centromere / Q000648:ultrastructure; D002869:Chromosome Aberrations; D015342:DNA Probes; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D011628:Puberty, Delayed / Q000235:genetics*; D012303:Ring Chromosomes; D014960:X Chromosome / Q000648:ultrastructure*; D014998:Y Chromosome / Q000648:ultrastructure*
D015342:DNA Probes; D005819:Genetic Markers