Duplication of the short arm of the X chromosome in mother and daughter.
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter-->p22.3::p22.3-->cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromere-specific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11% of her lymphocytes the duplicated X was active.
Tuck-Muller
C M
CM
Department of Medical Genetics, University of South Alabama, College of Medicine, Mobile 36688.
Martinez
J E
JE
Batista
D A
DA
Kearns
W G
WG
Wertelecki
W
W
D000328:Adult; D002503:Centromere; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D004276:DNA, Satellite / Q000032:analysis; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009035:Mothers; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D004276:DNA, Satellite