Literature DB >> 7196955

Monozygotic twins discordant for rubinstein-taybi syndrome.

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

Abstract

A pair of male monozygotic twins discordant for Rubinstein-Taybi syndrome is reported. Monozygosity of the twins was established using blood grouping, typing of serum proteins, isozymes, HLA, and chromosomal heteromorphisms. The twins are the first twin pair discordant for the syndrome in which monozygosity has been firmly established. The pathogenesis of the syndrome is discussed in relation to the occurrence of both discordant and concordant monozygotic twins.

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Mesh：

Year:  1981        PMID： 7196955      PMCID： PMC1048742          DOI： 10.1136/jmg.18.4.312

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

Authors:  J H RUBINSTEIN; H TAYBI
Journal:  Am J Dis Child       Date:  1963-06

2.  The Rubinstein-Taybi syndrome. A clinical and muscle electron microscopic study.

Authors:  V M Der Kaloustian; A K Afifi; A A Sinno; J Mire
Journal:  Am J Dis Child       Date:  1972-12

3.  The Bubinstein-Taybi syndrome: familial and dermatoglyphic data.

Authors:  N E Simpson; J E Brissenden
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

4.  Ocular manifestations of the Rubinstein-Taybi syndrome. Case report and review of the literature.

Authors:  F H Roy; R L Summitt; R L Hiatt; J G Hughes
Journal:  Arch Ophthalmol       Date:  1968-03

5.  The Rubinstein-Taybi syndrome.

Authors:  C J Padfield; M W Partington; N E Simpson
Journal:  Arch Dis Child       Date:  1968-02       Impact factor: 3.791

6.  Monozygotic twinning and structural defects.

Authors:  A A Schinzel; D W Smith; J R Miller
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406

7.  Broad thumbs and broad great toes with facial abnormalities and mental retardation.

Authors:  C F Johnson
Journal:  J Pediatr       Date:  1966-06       Impact factor: 4.406

8.  Rubinstein's syndrome in two siblings.

Authors:  M Takeuchi
Journal:  Gunma J Med Sci       Date:  1966-03
  8 in total
  4 in total

1.  Rubinstein-Taybi syndrome in a mother and son.

Authors:  R C Hennekam; E J Lommen; J L Strengers; H G Van Spijker; T M Jansen-Kokx
Journal:  Eur J Pediatr       Date:  1989-02       Impact factor: 3.183

Review 2.  Rubinstein-Taybi syndrome.

Authors:  A C Berry
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

Review 3.  Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.

Authors:  M M van Genderen; G F Kinds; F C Riemslag; R C Hennekam
Journal:  Br J Ophthalmol       Date:  2000-10       Impact factor: 4.638

4.  Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome.

Authors:  Mustafa Ali Akın; Tamer Güneş; Leyla Akın; Dilek Çoban; Sena Kara Oncu; Aslıhan Kiraz; Selim Kurtoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011-02-23
  4 in total

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