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Chromosomal Microarray Analysis in a Girl With Mental Retardation and Spina Bifida

✍ Scribed by Inesse Ben Abdallah; Hanene Hannachi; Najla Soyah; Ali Saad; Hatem Elghezal

Book ID
116825841
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
580 KB
Volume
44
Category
Article
ISSN
0887-8994

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Deletion of chromosome 21 in a girl with
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✍ 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