Terminal deletion of chromosome 1(q43) in a female infant.

Author:

Garani G P,Tamisari L,Volpato S,Vigi V

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Deletions of the long arm of chromosome 6; two new cases and review of the literature;Young, R.S.; Fidone, G.S.; Reider-Garcia, P.A.; Hansen, K.L.; McCombs, J.L.; Moore, C.M.;Am J Med Genet,1985

2. Interstitial deletion of the long arm of chromosome 6 (del(6)(q16-q22); case report and review of the literature;Schwartz, M.F.; Kaffe, S.; Wallace, S.; Desnick, R.J.;Clin Genet,1984

3. Congenital anomalies including the VATER association in a patient with a del(6)q deletion;McNeal, R.M.; Scoglund, R.R.; Franke, U.;J Pediatr,1977

4. At the vertex of the head a tuft of long hairs delimiting a small area of skin aplasia (0-8x0-6 cm) was visible (fig 1). A high protruding forehead, pronounced epicanthus, a broad nose with flat root, and micrognathia with downturned corners of the mouth were observed at examination. The ears were low set and the neck was short and broad. A CT scan of the brain showed partial agenesis of the corpus callosum. An x ray of the chest showed the presence of a supernumerary rib. X ray of the spine showed abnormalities of the sacral vertebrae; in S4 the left transverse process was missing, while in S5 the right one Received for publication,1986

5. q43. Am J Med Genet 1981;33:455-63.

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