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An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

✍ Scribed by Ina Knerr; Johannes Zschocke; Stefan Schellmoser; Hans G Topf; Corina Weigel; Jörg Dötsch; Wolfgang Rascher

Book ID: 115012048
Publisher: BioMed Central
Year: 2005
Tongue: English
Weight: 590 KB
Volume: 5
Category: Article
ISSN: 1471-2431
DOI: 10.1186/1471-2431-5-5

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Familial 13p+ chromosome with mental ret

Familial 13p+ chromosome with mental retardation and dysmorphic features in two children

✍ C. Stoll; A. Rohmer; R. Korn; G. Heumann 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 592 KB

Chromosomal studies of two brothers with mental retardation and dysmorphic features showed a 13p+ chromosome. The same 13p+ chromosome was found in the father and the other sib, who were both phenotypically normal. The relationship between the physical abnormalities and the chromosomal findings are