A duplication within the critical fertility region of X chromosome in a mentally retarded woman with normal menarche
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Reference6 articles.
1. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings;Bernstein;J. Med. Genet.,1980
2. Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency;Bjerglund Nielsen;Hum, Genet.,1982
3. Balanced structural changes involving the human X: Effect on sexual phenotype;Madan;Hum. Genet.,1983
4. Tandem duplication dup(X) (q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation;Steinbach;Hum. Genet.,1980
5. The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm;Van Dyke;Am. J. Med. Genet.,1983
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1. Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia;American Journal of Medical Genetics Part A;2005
2. De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern;American Journal of Medical Genetics Part A;2004-11-03
3. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype;American Journal of Medical Genetics;2002-12-10
4. Preferential Inactivation of a dupX(q23 → q27–28) Chromosome in a Girl with Mental Retardation and Dysmorphy;Human Heredity;2001
5. De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype;AM J MED GENET;1999
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