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De novo interstitial deletion 16(q12. 1q13) of paternal origin in a 10-year-old boy

โœ Scribed by Simone Schuffenhauer; David F. Callen; Heide Seidel; Yang Shen; Gabriele Lederer; Jan Murken


Book ID
115090333
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
510 KB
Volume
42
Category
Article
ISSN
0009-9163

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Rare interstitial deletion 9q31.2 to q33
โœ Ulrike Gamerdinger; Thomas Eggermann; Regine Schubert; Gesa Schwanitz; Martina K ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 355 KB ๐Ÿ‘ 1 views

## Abstract The female carrier of a de novo interstitial deletion 9q [karyotype 46,XX,del(9)(q31.2q33.1)] was followed up over a period of more than 20 years. She shows facial dysmorphisms and significant growth retardation. Motor abilities are restricted by muscular hypotonia and malposition of th