Apparent dominant transmission of the Rubinstein-Taybi syndrome

Robert W. Marion, D. M. Garcia, J. B. Karasik

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

The cause of the Rubinstein-Taybi syndrome (RTS), a multiple congenital anomalies/mental retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a deletion of chromosomal material at 16p13.3 has been found in some patients with the disorder, but no such deletion can be identified in the majority of affected individuals. Although the disorder has been well documented to be concordant in at least 7 monozygotic twin pairs and in one non-twin sib pair, only one clear-cut case of parent-to-child transmission has been reported previously. We present here a mother and daughter, both of whom appear to be affected with RTS, strongly suggesting either autosomal or X-linked dominant transmission. The paucity of previous cases of parent-to-child transmission may be related to either decreased fertility or decreased fitness in affected individuals.

Original languageEnglish (US)
Pages (from-to)284-287
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume46
Issue number3
StatePublished - 1993

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Rubinstein-Taybi Syndrome
Monozygotic Twins
Nuclear Family
Intellectual Disability
Fertility
Mothers

Keywords

  • autosomal dominant inheritance x-linked dominant inheritance
  • broad thumb-hallux syndrome
  • mental retardation
  • multiple malformation syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Apparent dominant transmission of the Rubinstein-Taybi syndrome. / Marion, Robert W.; Garcia, D. M.; Karasik, J. B.

In: American Journal of Medical Genetics, Vol. 46, No. 3, 1993, p. 284-287.

Research output: Contribution to journalArticle

Marion, Robert W. ; Garcia, D. M. ; Karasik, J. B. / Apparent dominant transmission of the Rubinstein-Taybi syndrome. In: American Journal of Medical Genetics. 1993 ; Vol. 46, No. 3. pp. 284-287.
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