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Article

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother.

Clinical genetics - 1 Aug 1996

Apacik C, Cohen M, Jakobeit M, Schmucker B, Schuffenhauer S, Thurn und Taxis E, Genzel-Boroviczeny O, Stengel-Rutkowski S

Abstract excerpt

We present the phenotypic, cytogenetic and molecular findings in two dysmorphic and mentally retarded brothers with disomy Xq12-->q13.3. The mother and the grandmother carry the same rearrangement of the X chromosome, which was interpreted as an inverted insertion of the segment (X)(q12-->q13.3) into Xq21.2. The X-inactivation-specific-transcript (XIST) is expressed in the probands mother but is absent in her...

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PMID: 8937763
DOI: 10.1111/j.1399-0004.1996.tb02350.x

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