Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Author:

Pivnick E K,Velagaleti G V,Wilroy R S,Smith M E,Rose S R,Tipton R E,Tharapel A T

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference59 articles.

1. An (11; 2 1) translocation in four generations with chromosome 11 abnormalities in the offspring;Jacobsen, P.; Hauge, M.; Henningen, K.;Hum Hered,1973

2. Distal 1 lq monosomy. The typical 1 q monosomy syndrome is due to deletion of subband 11 q24.1;Fryns, J.P.; Kleczkowska, A.; Buttiens, M.;Clin Genet,1986

3. Partial deficiency of long arm of chromosome No 11;Coco, R.; Penchaszadeh, V.B.;J Genet Hum,1977

4. Brief clinical report. Ring 11 chromosome: phenotype-karyotype correlation with deletion of 1 q;Cousineau, A.J.; Higgins, J.V.; Scott-Emaukpor, A.B.;Am J Med Genet,1983

5. Ring 11 chromosome;Valente, M.; Muller, H.; Sparkes, R.S.,1977

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