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Article

Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype.

American journal of medical genetics. Part A - 30 Jul 2005

Zafra de la Rosa G, Venegas-Vega C A, Monroy N, Contreras-Bucio G, Friedrich U, Houman M, Saad A, Fernández P, Kofman-Alfaro S, Cervantes A

Abstract excerpt

We describe a 4-year-old boy with partial 3q trisomy and distal 8p monosomy. The patient presented with mental retardation, dysmorphic face, congenital heart defect, brain and genital anomalies, and behavioral problems. The conventional cytogenetic analysis showed a 46,XY,add(8p) karyotype. Reverse painting and microsatellite analysis demonstrated a partial monosomy of 8p23.1 --> pter and a partial trisomy of...

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PMID: 15957183
DOI: 10.1002/ajmg.a.30802

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