Duplication of the short arm of the X chromosome in mother and daugther |
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| Authors: | Cathy M. Tuck-Muller Jose E. Martinez Denise A. S. Batista William G. Kearns Wladimir Wertelecki |
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| Affiliation: | (1) Department of Medical Genetics, University of South Alabama, College of Medicine, 36688 Mobile, AL, USA;(2) Department of Gynecology and Obstetrics, The Johns Hopkins University School of Medicine, 21287 Baltimore, MD, USA;(3) Department of Genetics, IB, UNESP, Botucatu, SP, Brazil;(4) Department of Pediatrics, The Johns Hopkins University School of Medicine, 21287 Baltimore, MD, USA;(5) Department of Medical Genetics, University of South Alabama, CCCB 286, 36688 Mobile, AL, USA |
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| Abstract: | 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 centromerespecific 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. |
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