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Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

✍ Scribed by Adam J. de Smith; Mieke M. van Haelst; Richard J. Ellis; Susan E. Holder; Stewart J. Payne; Sugera K. Hashim; Philippe Froguel; Alexandra I.F. Blakemore


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
178 KB
Volume
155
Category
Article
ISSN
1552-4825

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✦ Synopsis


FIG. 1. Patient aged 11 years. Note high forehead, frontal upsweep, upslanting palpebral fissures, and small nose and mouth.


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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‘ 2 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