TY - JOUR
T1 - Fragile-x mental retardation syndrome transmitted through intellectually normal males
T2 - Implications for genetic counseling
AU - Young, Robert S.
AU - Jaramillo, Carmen
AU - McCombs, Jerome L.
AU - Moore, Charleen M.
AU - Jorgenson, Ronald J.
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 1986/4
Y1 - 1986/4
N2 - The fragile-X mental retardation syndrome is the second most common identifiable cause of mental retardation in man. This condition violates many of the expectations for X-linked disorders, including the transmission of the syndrome through men who carry the gene but, for unknown reasons, do not express it. Two new cases of male transmission are presented along with four other cases heretofore unidentified in the literature, bringing the total number of confirmed or probable cases of transmission through normal men to 32. The various unorthodox characteristics of the syndrome are reviewed in light of their influence on genetic counseling, Recommendations for counseling families with fragile-X include (1) evaluating all sons of carrier women psychometrically and cytogenetically, (2) abandoning termination of pregnancies with male fetuses as a means of preventing the fragile-X syndrome, (3) assuming that all mothers of sporadic cases are carriers, and (4) karyotyping at-risk female members at an early age.
AB - The fragile-X mental retardation syndrome is the second most common identifiable cause of mental retardation in man. This condition violates many of the expectations for X-linked disorders, including the transmission of the syndrome through men who carry the gene but, for unknown reasons, do not express it. Two new cases of male transmission are presented along with four other cases heretofore unidentified in the literature, bringing the total number of confirmed or probable cases of transmission through normal men to 32. The various unorthodox characteristics of the syndrome are reviewed in light of their influence on genetic counseling, Recommendations for counseling families with fragile-X include (1) evaluating all sons of carrier women psychometrically and cytogenetically, (2) abandoning termination of pregnancies with male fetuses as a means of preventing the fragile-X syndrome, (3) assuming that all mothers of sporadic cases are carriers, and (4) karyotyping at-risk female members at an early age.
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U2 - 10.1097/00007611-198604000-00004
DO - 10.1097/00007611-198604000-00004
M3 - Article
C2 - 3704696
AN - SCOPUS:0022701996
VL - 79
SP - 405
EP - 409
JO - Southern Medical Journal
JF - Southern Medical Journal
SN - 0038-4348
IS - 4
ER -