Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
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...
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| Formato: | Capítulo de libro |
| Lenguaje: | Inglés |
| Publicado: |
1998
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| Acceso en línea: | Registro en Scopus DOI Handle Registro en la Biblioteca Digital |
| Aporte de: | Registro referencial: Solicitar el recurso aquí |
| LEADER | 09274caa a22010937a 4500 | ||
|---|---|---|---|
| 001 | PAPER-19787 | ||
| 003 | AR-BaUEN | ||
| 005 | 20230518205109.0 | ||
| 008 | 190411s1998 xx ||||fo|||| 00| 0 eng|d | ||
| 024 | 7 | |2 scopus |a 2-s2.0-0031716708 | |
| 040 | |a Scopus |b spa |c AR-BaUEN |d AR-BaUEN | ||
| 030 | |a AJMGD | ||
| 100 | 1 | |a Wyszynski, D.F. | |
| 245 | 1 | 0 | |a Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate |
| 260 | |c 1998 | ||
| 270 | 1 | 0 | |m Wyszynski, D.F.; University of Buenos Aires, Conde 1972, 1428 Buenos Aires, Argentina; email: dfw@house.com.ar |
| 506 | |2 openaire |e Política editorial | ||
| 504 | |a Amaratunga, A.D.S., Chandrasekera, A., Incidence of cleft lip and palate in Sri Lanka (1989) J Oral Maxillofac Surg, 47, pp. 559-561 | ||
| 504 | |a Bear, J.C., A genetic study of facial clefting in northern England (1976) Clinical Genet, 9, pp. 277-284 | ||
| 504 | |a Bixler, D., Fogh-Andersen, P., Conneally, P.M., Incidence of cleft lip and palate in the offspring of cleft parents (1971) Clin Genet, 2, pp. 155-159 | ||
| 504 | |a Carter, C.O., Genetics of common disorders (1969) Br Med Bull, 25, pp. 52-57 | ||
| 504 | |a Carter, C.O., Fraser Roberts, J.A., Evans, K.A., Buck, A.R., Genetic clinic. A follow up (1971) Lancet, 1, pp. 281-285 | ||
| 504 | |a Carter, C.O., Evans, K., Coffey, R., Fraser Roberts, J.A., Buck, A., Fraser Roberts, M., A three generation family study of cleft lip with or without cleft palate (1982) J Med Genet, 19, pp. 246-261 | ||
| 504 | |a Cereijo, A.I., Martínez-Frías, M.L., Prevalence of other birth defects among relatives of oral cleft probands (1992) J Med Genet, 29, p. 516 | ||
| 504 | |a Curtis, E.J., Clarke Fraser, F., Warburton, D., Congenital cleft lip and palate. Risk figures for counseling (1961) Am J Dis Child, 102, pp. 105-109 | ||
| 504 | |a Czeizel, A., Tusnady, G., A family study on cleft lip with or without cleft palate and posterior cleft palate in Hungary (1972) Hum Hered, 22, pp. 405-416 | ||
| 504 | |a Dionisopoulos, T., Williams, H.B., Congenital anomalies of the mouth, palate, and pharynx (1997) Congenital Anomalies of the Ear, Nose, and Throat, p. 244. , Tewfik TL, der Kaloustian VM (eds): New York: Oxford University Press | ||
| 504 | |a Edwards, J.H., Risks of malformed relatives (1976) Lancet, 1, p. 1348 | ||
| 504 | |a Elston, R.C., Johnson, W.D., (1987) Essentials of Biostatistics, , Philadelphia: F.A. Davis Company | ||
| 504 | |a Evers-Kiebooms, G., Van Den Berghe, H., Impact of genetic counselling: A review of published follow-up studies (1979) Clin Genet, 15, pp. 465-1174 | ||
| 504 | |a Fogh-Andersen, P., (1942) Inheritance of Harelip and Cleft Palate, , Copenhagen: Arnold Busck | ||
| 504 | |a Fraser Roberts, J., Inherited diseases (1962) Methodology in Human Genetics, pp. 129-143. , Burdette WJ (ed): San Francisco: Holden-Day | ||
| 504 | |a Fujino, H., Tashiro, H., Sanui, Y., Tanaka, K., Empirical genetic risk among offspring of cleft lip and cleft palate patients (1967) Jpn J Hum Genet, 12, pp. 62-68 | ||
| 504 | |a Koguchi, H., Recurrence rate in offspring and siblings of patients with cleft lip and/or cleft palate (1975) Jpn J Hum Genet, 20, pp. 207-221 | ||
| 504 | |a Leonard, C.O., Chase, G.A., Childs, B., Genetic counselling: A consumer's view (1972) N Engl J Med, 287, pp. 433-439 | ||
| 504 | |a Lie, R.T., Wilcox, A.J., Skjaerven, R., A population-based study of the risk of recurrence of birth defects (1994) N Engl J Med, 331, pp. 1-4 | ||
| 504 | |a Melnick, M., Bixler, D., Fogh-Andersen, P., Conneally, P.M., Cleft lip ± cleft palate: An overview of the literature and an analysis of Danish cases born between 1941 and 1968 (1980) Am J Med Genet, 6, pp. 83-97 | ||
| 504 | |a Milan, M., Astolfi, G., Volpato, S., Garani, G.P., Clementi, M., Tenconi, R., Boni, S., Calzolari, E., 766 cases of oral cleft in Italy (1994) Eur J Epidemiol, 10, pp. 317-324 | ||
| 504 | |a Mitchell, L.E., Christensen, K., Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands (1996) Am J Med Genet, 61, pp. 371-376 | ||
| 504 | |a Mitchell, L.E., Christensen, K., Evaluation of family history data for Danish twins with nonsyndromic cleft lip with or without cleft palate (1997) Am J Med Genet, 72, pp. 120-121 | ||
| 504 | |a Murray, J.C., Daack-Hirsch, S., Buetow, K.H., Munger, R., Espina, L., Paglinawan, N., Villanueva, E., Magee, W., Clinical and epidemiological studies of cleft lip and palate in the Philippines (1997) Cleft Palate Craniofac J, 34, pp. 7-10 | ||
| 504 | |a Nemana, L.J., Marazita, M.L., Melnick, M., Genetic analysis of cleft lip with or without cleft palate in Madras, India (1992) Am J Med Genet, 42, pp. 5-9 | ||
| 504 | |a Smith, C., Computer programme to estimate recurrence risks for multifactorial familial disease (1972) BMJ, 1, pp. 495-497 | ||
| 504 | |a (1997) Stata Statistical Software: Release 5.0, , College Station, TX: Stata Corporation | ||
| 504 | |a Tolarová, M., A study of the incidence, sex-ratio, laterality and clinical severity in 3,660 probands with facial clefts in Czechoslovakia (1987) Acta Chir Plast, 29, pp. 77-87 | ||
| 504 | |a Woolf, C.M., Congenital cleft lip. A genetic study of 496 propositi (1971) J Med Genet, 8, pp. 65-83 | ||
| 504 | |a Woolf, C.M., Woolf, R.M., Broadbent, T.R., Cleft lip and heredity (1964) Plast Reconstr Surg, 34, pp. 11-14 | ||
| 504 | |a Wyszynski, D.F., Beaty, T.H., Maestri, N.E., Genetics of nonsyndromic oral clefts revisited (1996) Cleft Palate Craniofac J, 33, pp. 406-417 | ||
| 504 | |a Wyszynski, D.F., Lewanda, A.F., Beaty, T.H., Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate (1996) Am J Med Genet, 66, pp. 468-470 | ||
| 520 | 3 | |a 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. |l eng | |
| 593 | |a Department of Public Health, School of Medicine, University of Buenos Aires, Argentina | ||
| 593 | |a Department of Epidemiology, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD, United States | ||
| 593 | |a Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, United States | ||
| 593 | |a Western Maryland College, Westminster, MD, United States | ||
| 593 | |a University of Buenos Aires, Conde 1972, 1 B, (1428) Buenos Aires, Argentina | ||
| 690 | 1 | 0 | |a BIRTH DEFECTS |
| 690 | 1 | 0 | |a CLEFT LIP |
| 690 | 1 | 0 | |a CLEFT PALATE |
| 690 | 1 | 0 | |a CONGENITAL MALFORMATIONS |
| 690 | 1 | 0 | |a EPIDEMIOLOGY |
| 690 | 1 | 0 | |a GENETIC COUNSELING |
| 690 | 1 | 0 | |a ORAL CLEFTS |
| 690 | 1 | 0 | |a ARTICLE |
| 690 | 1 | 0 | |a CLEFT LIP |
| 690 | 1 | 0 | |a CLEFT PALATE |
| 690 | 1 | 0 | |a DIAGNOSTIC ACCURACY |
| 690 | 1 | 0 | |a GENETIC COUNSELING |
| 690 | 1 | 0 | |a GENETIC RISK |
| 690 | 1 | 0 | |a MEDICAL SPECIALIST |
| 690 | 1 | 0 | |a PRIORITY JOURNAL |
| 690 | 1 | 0 | |a RECURRENT DISEASE |
| 690 | 1 | 0 | |a RISK ASSESSMENT |
| 690 | 1 | 0 | |a CLEFT LIP |
| 690 | 1 | 0 | |a CLEFT PALATE |
| 690 | 1 | 0 | |a DATA COLLECTION |
| 690 | 1 | 0 | |a DISEASES IN TWINS |
| 690 | 1 | 0 | |a GENETIC COUNSELING |
| 690 | 1 | 0 | |a GENETIC PREDISPOSITION TO DISEASE |
| 690 | 1 | 0 | |a GENETICS, MEDICAL |
| 690 | 1 | 0 | |a HUMANS |
| 690 | 1 | 0 | |a RISK FACTORS |
| 690 | 1 | 0 | |a TRIPLETS |
| 700 | 1 | |a Zeiger, J. | |
| 700 | 1 | |a Tilli, M.T. | |
| 700 | 1 | |a Bailey-Wilson, J.E. | |
| 700 | 1 | |a Beaty, T.H. | |
| 773 | 0 | |d 1998 |g v. 79 |h pp. 184-190 |k n. 3 |p Am. J. Med. Genet. |x 01487299 |t American Journal of Medical Genetics | |
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