A non-centromeric C band variant on chromosome 11q23.2.
An extra G band was found inserted into chromosome 11q23.2 in a boy who had severe developmental delay and anal stenosis. Cytogenetic characterisation of this extra band showed that it was composed of Q band brilliant, C band heterochromatin. It was also present in clinically normal subjects in two other generations and was therefore presumed to be unrelated to the clinical abnormalities in the proband. Although rare, this cytogenetic anomaly may be useful as a genetic marker for 11q23.2.
Spak
D K
DK
Clinical Cytogenetics, Stanford University Hospital, California.
Johnston
K
K
Donlon
T A
TA
D000015:Abnormalities, Multiple / Q000235:genetics*; D001004:Anus Diseases / Q000150:complications / Q000235:genetics; D002503:Centromere; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005819:Genetic Markers; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree
D005819:Genetic Markers; D006570:Heterochromatin