Dominant inheritance of a syndrome similar to Rubinstein-Taybi

P. Cotsirilos, J. C. Taylor, Reuben Matalon

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Two sibs and their mother were affected with a syndrome like the Rubinstein-Taybi syndrome. All three individuals had broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked noses. Four sibs of the mother had broad thumbs, suggesting a familial pattern. So far there has been no report of dominant transmission of the Rubinstein-Taybi syndrome. This family bears close resemblance to the Rubinstein-Taybi syndrome, which is transmitted as an autosomal or X-linked dominant trait. Inasmuch as the expressivity of the syndrome may be variable, we propose that a thorough family investigation is indicated in all apparently sporadic cases of Rubinstein-Taybi syndrome. Familial cases may be more common than realized and require appropriate genetic counseling.

Original languageEnglish (US)
Pages (from-to)85-93
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume26
Issue number1
StatePublished - 1987
Externally publishedYes

Fingerprint

Rubinstein-Taybi Syndrome
Thumb
Toe Phalanges
Hallux
X-Linked Genes
Genetic Counseling
Eyelids
Nose

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Dominant inheritance of a syndrome similar to Rubinstein-Taybi. / Cotsirilos, P.; Taylor, J. C.; Matalon, Reuben.

In: American Journal of Medical Genetics, Vol. 26, No. 1, 1987, p. 85-93.

Research output: Contribution to journalArticle

@article{fffba541d8064ccbb504691ec6e8d8ab,
title = "Dominant inheritance of a syndrome similar to Rubinstein-Taybi",
abstract = "Two sibs and their mother were affected with a syndrome like the Rubinstein-Taybi syndrome. All three individuals had broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked noses. Four sibs of the mother had broad thumbs, suggesting a familial pattern. So far there has been no report of dominant transmission of the Rubinstein-Taybi syndrome. This family bears close resemblance to the Rubinstein-Taybi syndrome, which is transmitted as an autosomal or X-linked dominant trait. Inasmuch as the expressivity of the syndrome may be variable, we propose that a thorough family investigation is indicated in all apparently sporadic cases of Rubinstein-Taybi syndrome. Familial cases may be more common than realized and require appropriate genetic counseling.",
author = "P. Cotsirilos and Taylor, {J. C.} and Reuben Matalon",
year = "1987",
language = "English (US)",
volume = "26",
pages = "85--93",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Dominant inheritance of a syndrome similar to Rubinstein-Taybi

AU - Cotsirilos, P.

AU - Taylor, J. C.

AU - Matalon, Reuben

PY - 1987

Y1 - 1987

N2 - Two sibs and their mother were affected with a syndrome like the Rubinstein-Taybi syndrome. All three individuals had broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked noses. Four sibs of the mother had broad thumbs, suggesting a familial pattern. So far there has been no report of dominant transmission of the Rubinstein-Taybi syndrome. This family bears close resemblance to the Rubinstein-Taybi syndrome, which is transmitted as an autosomal or X-linked dominant trait. Inasmuch as the expressivity of the syndrome may be variable, we propose that a thorough family investigation is indicated in all apparently sporadic cases of Rubinstein-Taybi syndrome. Familial cases may be more common than realized and require appropriate genetic counseling.

AB - Two sibs and their mother were affected with a syndrome like the Rubinstein-Taybi syndrome. All three individuals had broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked noses. Four sibs of the mother had broad thumbs, suggesting a familial pattern. So far there has been no report of dominant transmission of the Rubinstein-Taybi syndrome. This family bears close resemblance to the Rubinstein-Taybi syndrome, which is transmitted as an autosomal or X-linked dominant trait. Inasmuch as the expressivity of the syndrome may be variable, we propose that a thorough family investigation is indicated in all apparently sporadic cases of Rubinstein-Taybi syndrome. Familial cases may be more common than realized and require appropriate genetic counseling.

UR - http://www.scopus.com/inward/record.url?scp=0023265167&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023265167&partnerID=8YFLogxK

M3 - Article

VL - 26

SP - 85

EP - 93

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -