Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient

We describe a woman with Ullrich‐Turner manifestations and a 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization (FISH) and DNA analysis were carried out in order to determine the origin and structure of the marker. FISH showed that the marker was a Y‐derived dicentric chromosome. The break...

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Veröffentlicht in:	American journal of medical genetics 2000-03, Vol.91 (2), p.95-98
Hauptverfasser:	Godoy Assumpção, Juliana, Hackel, Christine, Marques-de-Faria, Antonia Paula, Palandi de Mello, Maricilda
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Blotting, Southern Chromosome Banding Female Genetic Markers gonadoblastoma Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Isochromosomes Karyotyping Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Models, Genetic mosaicism Polymerase Chain Reaction Sequence Tagged Sites Tropical medicine Turner Syndrome - genetics Ullrich-Turner syndrome Y Chromosome
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