نتایج جستجو برای: small supernumerary marker chromosome ssmc

تعداد نتایج: 1015567  

2005
Svetlana A. Yatsenko Diane Treadwell-Deering Kevin Krull Richard Alan Lewis Daniel Glaze Pawel Stankiewicz James R. Lupski Lorraine Potocki

Clinical Report Trisomy 17p10-p12 Due to Mosaic Supernumerary Marker Chromosome: Delineation of Molecular Breakpoints and Clinical Phenotype, and Comparison to Other Proximal 17p Segmental Duplications Svetlana A. Yatsenko, Diane Treadwell-Deering, Kevin Krull, Richard Alan Lewis, Daniel Glaze, Pawel Stankiewicz, James R. Lupski, and Lorraine Potocki* Department of Molecular & Human Genetics, B...

Journal: :Collegium antropologicum 2010
Sanda Huljev Frković Ivana Tonković Durisević Ruzica Lasan Trcić Vladimir Sarnavka Kristina Crkvenac Gornik Dubravka Muzinić Ljiljana Letica Ivo Barić Davor Begović

Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressi...

Journal: :Journal of Medical Genetics 1994

2015
Venkata Padmalatha

Supernumerary Marker Chromosomes (SMC) follow non mendelian fashion in their inheritance, and are reported in variety of phenotypes. Although markers that contain satellites/bi-satellite variations of short arms do not confer any phenotypic alterations, it affects the fertility, vigour and interferes at non-disjunction during cell division and proves lethal to foetus. We report a couple wherein...

2014
Simone Lilian Gruber Débora Diniz Patrícia Elda Sobrinho-Scudeler Fausto Foresti Célio Fernando Baptista Haddad Sanae Kasahara

The B chromosome in the hylid Hypsiboas albopunctatus (2n = 22 + B) is small, almost entirely composed of C-positive heterochromatin, and does not pair with any chromosome of the A complement. B probe, obtained by microdissection and DOP-PCR amplification, was used to search for homology between the B and regular chromosomes of H. albopunctatus and of the related species H. raniceps (Cope, 1862...

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