The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling.Cleft Palate J. 1980 Jan; 17(1):52-7.CP
Abstract
The presence of congenital fistulae in the lower lip in combination with cleft lip, cleft palate, or both is diagnostic of the Van der Woude syndrome. This autosomal dominant syndrome had been reported to have a penetrance of 80% with variable expression. An analysis of eleven families with 67 affected individuals showed variable expression of clefting and lower lip pits. However, penetrance was found to be close to 100%. An approach to counseling advocates advising a 50% chance of inheriting the gene for Van der Woude syndrome.
MeSH
Pub Type(s)
Comparative Study
Journal Article
Language
eng
PubMed ID
6928118
Citation
Shprintzen, R J., et al. "The Penetrance and Variable Expression of the Van Der Woude Syndrome: Implications for Genetic Counseling." The Cleft Palate Journal, vol. 17, no. 1, 1980, pp. 52-7.
Shprintzen RJ, Goldberg RB, Sidoti EJ. The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. Cleft Palate J. 1980;17(1):52-7.
Shprintzen, R. J., Goldberg, R. B., & Sidoti, E. J. (1980). The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. The Cleft Palate Journal, 17(1), 52-7.
Shprintzen RJ, Goldberg RB, Sidoti EJ. The Penetrance and Variable Expression of the Van Der Woude Syndrome: Implications for Genetic Counseling. Cleft Palate J. 1980;17(1):52-7. PubMed PMID: 6928118.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling.
AU - Shprintzen,R J,
AU - Goldberg,R B,
AU - Sidoti,E J,
PY - 1980/1/1/pubmed
PY - 1980/1/1/medline
PY - 1980/1/1/entrez
SP - 52
EP - 7
JF - The Cleft palate journal
JO - Cleft Palate J
VL - 17
IS - 1
N2 - The presence of congenital fistulae in the lower lip in combination with cleft lip, cleft palate, or both is diagnostic of the Van der Woude syndrome. This autosomal dominant syndrome had been reported to have a penetrance of 80% with variable expression. An analysis of eleven families with 67 affected individuals showed variable expression of clefting and lower lip pits. However, penetrance was found to be close to 100%. An approach to counseling advocates advising a 50% chance of inheriting the gene for Van der Woude syndrome.
SN - 0009-8701
UR - https://www.unboundmedicine.com/medline/citation/6928118/The_penetrance_and_variable_expression_of_the_Van_der_Woude_syndrome:_implications_for_genetic_counseling_
L2 - http://www.diseaseinfosearch.org/result/7346
DB - PRIME
DP - Unbound Medicine
ER -