Monozygotic twins discordant for rubinstein-taybi syndrome.

Author:

Kajii T,Hagiwara K,Tsukahara M,Nakajima H,Fukuda Y

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Broad thumbs and broad great toes with facial abnormalities and mental retardation;Johnsson, C.F.;J Pediatr,1966

2. Rubinstein's syndrome in two siblings;Takeuchi, M.;Gumma J Med Sci,1966

3. The Rubinstein-Taybi syndrome: familial and dermatoglyphic data;Simpson, N.E.; Brissenden, J.E.;Am J Ham Genet,1973

4. The Rubinstein-Taybi syndrome: clinical and muscle electron microscopic study;VM, Der Kaloustian; AK, Afifi; AA, Sinno; J, Mire;Am J Dis Child,1972

5. The Rubinstein-Taybi syndrome. Arch Dis Child 1968; 43: The occurrence of the Rubinstein-Taybi syndrome in one of a pair of monozygotic twins is incompatible with single gene control. It is conceivable that a minor chromosomal change, beyond the limits of resolution of existing methods, occurred in twin I after twin development. The chromosomes of patients with the syndrome have usually been reported to be normal. In about 3 % of the patients a structural abnormality of the chromosomes has 94-101;Padfield, C.J.; Partington, M.W.; Simpson, N.E.

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1. Twins and Twinning;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

2. Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma;American Journal of Medical Genetics Part A;2011-04-07

3. Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome;Journal of Clinical Research in Pediatric Endocrinology;2011-03-05

4. Identical but not the same: The value of discordant monozygotic twins in genetic research;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2010

5. Fetal karyotype in feto-fetal transfusion syndrome: a 7-year experience;Prenatal Diagnosis;2009-08

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