X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene-Reference-Cited by-同舟云学术

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

Published:2008-06-28 Issue:1 Volume:34 Page:31-37
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Ballabio A.,Parenti G.,Carrozzo R.,Coppa G.,Felici L.,Migliori V.,Silengo M.,Franceschini P.,Andria G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1988.tb02612.x/fullpdf

Reference27 articles.

1. Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences;Affara;Nucl. Acids Res.,1986

2. Y-to-X chromosome translocation observed in two generations;Akesson;Hum. Genet.,1980

3. Familial t(X:Y)(p223q11) associated with short stature in 4 male and 5 female carriers, and with X-linked ichthyosis and anhydrosis in 4 male carriers;Allderdice;Am. J. Hum. Genet.,1983

4. Steroid sulphatase deficiency is present in patients with the syndrome “Ichthyosis and male hypogonadism and with Rud syndrome;Andria;J. Inher. Metab. Dis.,1984

5. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency;Ballabio;Hum. Genet.,1985

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3. Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series;British Journal of Dermatology;2018-09-11

4. Karyotype determination and reproductive guidance for short stature women with a hidden Y chromosome fragment;Reproductive BioMedicine Online;2013-07

5. Ichthyosiform Dermatoses;Emery and Rimoin's Principles and Practice of Medical Genetics;2013