Isochromosome Xq in Klinefelter syndrome: Report of 7 new cases

Autor:	D. Meschede, Peter Meinecke, S Arps, W Harprecht, Elke Back, Karsten R. Held, T Koske-Westphal, S Kerber, Eberhard Nieschlag, E Steuber, Gerhard Wolff
Rok vydání:	1996
Předmět:	Mental development medicine.medical_specialty Pediatrics Isochromosome Aneuploidy Tall Stature Favorable prognosis Biology medicine.disease Short stature Endocrinology Internal medicine medicine Klinefelter syndrome medicine.symptom Genetics (clinical) X chromosome
Zdroj:	American Journal of Medical Genetics. 64:580-582
ISSN:	1096-8628 0148-7299
Popis:	In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::ba4c4d2f85272c96911496dfcfcc36fe https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<580::aid-ajmg10>3.0.co Zobrazit plný text záznamu Plný text