A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation

Autor:	N. Matsaniotis, Maria Alevizaki, P. Panagiotopoulou, Ariadni Mavrou, Tsenghi C, D. Ikkos, Catherine Metaxotou
Rok vydání:	1983
Předmět:	Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Locus (genetics) Chromosomal translocation Translocation Genetic Nullisomic Intellectual Disability Internal medicine Genetics Humans Medicine Genetics (clinical) X chromosome Sex Chromosomes X-linked ichthyosis business.industry Ichthyosis Hypogonadism Karyotype Steroid sulfatase activity medicine.disease Endocrinology Karyotyping business
Zdroj:	Clinical Genetics. 24:380-383
ISSN:	0009-9163
DOI:	10.1111/j.1399-0004.1983.tb00089.x
Popis:	A 14-year-old boy is described with hypogonadism, ichthyosis and mental retardation. His karyotype was 46,Y, der(X),t(X;)(p22;q11). His mother's karyotype was 46,X,der(X),t(X;Y)(p22;q11). Thus the son is nullisomic for the region Xp22 leads to pter and the mother is monosomic for the same region. The steroid sulfatase activity in this boy is discussed in relationship to the enzyme's locus on the X chromosome and the manifestation of ichthyosis.
Databáze:	OpenAIRE
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