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Duplication of the short arm of the X chromosome in mother and daugther

✍ Scribed by Cathy M. Tuck-Muller; Jose E. Martinez; Denise A. S. Batista; William G. Kearns; Wladimir Wertelecki

Publisher
Springer
Year
1993
Tongue
English
Weight
958 KB
Volume
91
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

πŸ“œ SIMILAR VOLUMES

Partial duplication of the short arm of
Partial duplication of the short arm of chromosome 10
✍ J. P. Fryns; J. Deroover; J. Haegeman; H. Berghe πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 226 KB

A 21-year-old mentally retarded female with 10p12 trisomy is reported. She presented a slight craniofacial dysmorphism very similar to that found in the full 10p-trisomy syndrome. Other features usually found in full 10p trisomy, however, such as failure to thrive and internal malformations, were ab