A paternal balanced translocation [t(7;22)(q32;q13.3)] leading to reciprocal unbalanced karyotypes in two consecutive pregnancies.
A family is reported in which a man with a balanced reciprocal translocation [46,XY,t(7;22)(q32;q13.3)] fathered a daughter who was trisomic for the region 7q32----7qter and monosomic for 22q13.3----22qter, and a male fetus who was monosomic for 7q32----qter and trisomic for 22q13.3----22qter. The meiotic segregation of this translocation, as well as the phenotypes of the unbalanced offspring, are discussed.
Zackowski
J L
JL
Division of Human Genetics, University of Maryland School of Medicine, Baltimore 21201.
Raffel
L J
LJ
McDaniel
L D
LD
Schwartz
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic