Functional disomy of the Xq28 chromosome region

We report on two patients, a boy and a girl, with an additional Xq28 chromosome segment translocated onto the long arm of an autosome. The karyotypes were 46,XY,der(10)t(X;10)(q28;qter) and 46,XX,der(4)t(X;4)(q28;q34), respectively. In both cases, the de novo cryptic unbalanced X-autosome translocat...

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Veröffentlicht in:	European journal of human genetics : EJHG 2005-05, Vol.13 (5), p.579-585
Hauptverfasser:	SANLAVILLE, Damien, PRIEUR, Marguerite, CORMIER-DAIRE, Valerie, BAUJAT, Genevieve, ROMANA, Serge, VEKEMANS, Michel, TURLEAU, Catherine, DE BLOIS, Marie-Christine, GENEVIEVE, David, LAPIERRE, Jean-Michel, OZILOU, Catherine, PICQ, Monique, GOSSET, Philippe, MORICHON-DELVALLEZ, Nicole, MUNNICH, Arnold
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Aneuploidy Biological and medical sciences Chromosome aberrations Chromosomes, Human, Pair 10 - genetics Chromosomes, Human, Pair 4 - genetics Chromosomes, Human, X - genetics Female General aspects. Genetic counseling Humans Infant Karyotyping Male Medical genetics Medical sciences Translocation, Genetic
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