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Piebaldism in a Mentally Retarded Girl With Rare Deletion of the Long Arm of Chromosome 4

✍ Scribed by R. H. Sijmons; U. Kristoffersson; J. H. A. M. Tuerlings; R. Ljung; R. Dijkhuis-Stoffelsma; A. S. P. M. Breed


Book ID
115308783
Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
861 KB
Volume
10
Category
Article
ISSN
0736-8046

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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