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A bisatellited marker chromosome in a mentally retarded girl with infantile autism

✍ Scribed by K. RASMUSSEN; J. NIELSEN; I. SILLESEN; B. H. BRASK; P. SALDANTA-GARCIA


Book ID
114808472
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
357 KB
Volume
82
Category
Article
ISSN
0018-0661

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Deletion of chromosome 21 in a girl with
✍ Edman Ahlbom, B.; Sidenvall, R.; AnnerΓ©n, G. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 476 KB πŸ‘ 4 views

We report on a girl with a large interstitial deletion of the long arm of chromosome 21 and with mild mental retardation, congenital hypothyroidism, and hyperopia. The deletion [de1(21)(q11.1-q22.1)1 extends molecularly from marker D21S215 to D21S213. The distal breakpoint is not clearly defined but