PMID: 9643298Jun 27, 1998Paper

Three patients with a 45,X/46,X,psu dic(Xp) karyotype

Journal of Medical Genetics
P DaltonP Jacobs

Abstract

Few cases of isochromosomes for the short arm of the X have been reported and all are dicentric with variable portions of the long arms interposed between the two centromeres. This paper reports three cases of complete short arm duplication of one X chromosome in unrelated female patients. All patients also have a 45,X cell line and present with some characteristic features of Turner syndrome. We used conventional cytogenetics, in situ hybridisation, and molecular genetics to describe all three structurally abnormal chromosomes and the parental origin of two of them. We briefly discuss the "inactivation enhancement" theory; however, any genotype-phenotype correlation is complicated by the presence of the 45,X cell line.

References

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Dec 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·D PinkelJ Gray
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Apr 17, 1998·Annals of Human Genetics·P JacobsD Skuse

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Citations

Jan 27, 2015·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Tse-Ya YuTien-Shang Huang
Nov 29, 2011·Clinics in Laboratory Medicine·Xu Li
Jan 16, 2009·Pediatric Blood & Cancer·S Lauren GrayJennifer J D Morrissette
Jun 9, 2004·Child and Adolescent Psychiatric Clinics of North America·Melissa Hines
Apr 14, 2007·American Journal of Medical Genetics. Part a·Horacio Rivera, Maria G Domínguez
Aug 30, 2001·Psychiatric Genetics·T H WassinkS R Patil
Nov 30, 2019·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Brian P Chadwick
Oct 1, 2017·Experimental and Therapeutic Medicine·Niu LiJian Wang

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