TY - JOUR
T1 - Factors for improved genetic counseling for retinoblastoma based on a survey of 55 families
AU - Carlson, E. A.
AU - Letson, R. D.
AU - Ramsay, N. K.C.
AU - Desnick, R. J.
N1 - Funding Information:
From the Department of Biology, State University of New York at Stony Brook, New York City (Dr. Carlson); the Departments of Ophthalmology (Dr. Letson) and Pediatrics (Dr. Ramsay), University of Minnesota, Minneapolis; and from the Division of Medical Genetics, Mount Sinai School of Medicine, New York City (Dr. Desnick). This study was supported in part by grants from the National Foundation-March of Dimes (1-578) (Dr. Desnick); the Biomedical Research Support Grant (BRSG 431-H114G) (Dr. Carlson); and a Career Development Award (1 K04 AM00042) (Dr. Desnick), National Institutes of Health.
PY - 1979/4
Y1 - 1979/4
N2 - Of 55 families in which one or more patients with retinoblastoma were treated, five of these families involved more than one patient. The remaining 50 were sporadic cases. Two of the five familial cases involved collateral inheritance and three involved direct inheritance. Factors important for genetic counseling included the time of onset of first symptoms, the age of the father, the occurrence of a second primary tumor, unilateral vs bilateral involvement, and the cytogenetic analysis of the patient's chromosomes. Additionally, mutational mosaicism was considered as a cause for sporadic cases of retinoblastoma. Use of the risk figures derived from this study should provide more precise genetic counseling for parents, siblings, and patients with retinoblastoma.
AB - Of 55 families in which one or more patients with retinoblastoma were treated, five of these families involved more than one patient. The remaining 50 were sporadic cases. Two of the five familial cases involved collateral inheritance and three involved direct inheritance. Factors important for genetic counseling included the time of onset of first symptoms, the age of the father, the occurrence of a second primary tumor, unilateral vs bilateral involvement, and the cytogenetic analysis of the patient's chromosomes. Additionally, mutational mosaicism was considered as a cause for sporadic cases of retinoblastoma. Use of the risk figures derived from this study should provide more precise genetic counseling for parents, siblings, and patients with retinoblastoma.
UR - http://www.scopus.com/inward/record.url?scp=0018394879&partnerID=8YFLogxK
U2 - 10.1016/0002-9394(79)90230-7
DO - 10.1016/0002-9394(79)90230-7
M3 - Article
C2 - 443309
AN - SCOPUS:0018394879
SN - 0002-9394
VL - 87
SP - 449
EP - 459
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 4
ER -