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Abstract:

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common congenital malformation affecting about 1/1,000 caucasian infants. Although the familial clustering of CLfP has been studied thoroughly, estimation of recurrence risk for genetic counseling purposes can be difficult. A survey was mailed to 912 board-certified genetic counselors, 542 non-board-certified genetic counselors, and 776 board-certified clinical geneticists to investigate the recurrence risks they would assign to three example families with CL/P. Responses were received from 155 (17%) board-certified genetic counselors, 36 (6.6%) non-board-certified genetic counselors, and 100 (18.5%) board-certified clinical geneticists. No major differences were found in their responses, suggesting that for these three families, geneticists would provide similar estimates of risk, regardless of their amount of experience with oral clefts patients, where they are currently employed, or their board certification status.

Registro:

Documento: Artículo
Título:Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
Autor:Wyszynski, D.F.; Zeiger, J.; Tilli, M.T.; Bailey-Wilson, J.E.; Beaty, T.H.
Filiación:Department of Public Health, School of Medicine, University of Buenos Aires, Argentina
Department of Epidemiology, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD, United States
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, United States
Western Maryland College, Westminster, MD, United States
University of Buenos Aires, Conde 1972, 1 B, (1428) Buenos Aires, Argentina
Palabras clave:Birth defects; Cleft lip; Cleft palate; Congenital malformations; Epidemiology; Genetic counseling; Oral clefts; article; cleft lip; cleft palate; diagnostic accuracy; genetic counseling; genetic risk; medical specialist; priority journal; recurrent disease; risk assessment; Cleft Lip; Cleft Palate; Data Collection; Diseases in Twins; Genetic Counseling; Genetic Predisposition to Disease; Genetics, Medical; Humans; Risk Factors; Triplets
Año:1998
Volumen:79
Número:3
Página de inicio:184
Página de fin:190
DOI: http://dx.doi.org/10.1002/(SICI)1096-8628(19980923)79:3<184::AID-AJMG6>3.0.CO;2-N
Título revista:American Journal of Medical Genetics
Título revista abreviado:Am. J. Med. Genet.
ISSN:01487299
CODEN:AJMGD
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01487299_v79_n3_p184_Wyszynski

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Citas:

---------- APA ----------
Wyszynski, D.F., Zeiger, J., Tilli, M.T., Bailey-Wilson, J.E. & Beaty, T.H. (1998) . Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate. American Journal of Medical Genetics, 79(3), 184-190.
http://dx.doi.org/10.1002/(SICI)1096-8628(19980923)79:3<184::AID-AJMG6>3.0.CO;2-N
---------- CHICAGO ----------
Wyszynski, D.F., Zeiger, J., Tilli, M.T., Bailey-Wilson, J.E., Beaty, T.H. "Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate" . American Journal of Medical Genetics 79, no. 3 (1998) : 184-190.
http://dx.doi.org/10.1002/(SICI)1096-8628(19980923)79:3<184::AID-AJMG6>3.0.CO;2-N
---------- MLA ----------
Wyszynski, D.F., Zeiger, J., Tilli, M.T., Bailey-Wilson, J.E., Beaty, T.H. "Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate" . American Journal of Medical Genetics, vol. 79, no. 3, 1998, pp. 184-190.
http://dx.doi.org/10.1002/(SICI)1096-8628(19980923)79:3<184::AID-AJMG6>3.0.CO;2-N
---------- VANCOUVER ----------
Wyszynski, D.F., Zeiger, J., Tilli, M.T., Bailey-Wilson, J.E., Beaty, T.H. Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate. Am. J. Med. Genet. 1998;79(3):184-190.
http://dx.doi.org/10.1002/(SICI)1096-8628(19980923)79:3<184::AID-AJMG6>3.0.CO;2-N