TY - JOUR
T1 - 3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
AU - Abeliovich, D.
AU - Yagupsky, P.
AU - Bashan, N.
PY - 1982/1/1
Y1 - 1982/1/1
N2 - We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndrome and coloboma of the iris O.U.
AB - We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndrome and coloboma of the iris O.U.
UR - http://www.scopus.com/inward/record.url?scp=0020072591&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320120111
DO - 10.1002/ajmg.1320120111
M3 - Article
C2 - 7091199
AN - SCOPUS:0020072591
SN - 0148-7299
VL - 12
SP - 83
EP - 89
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -