A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases.
A minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low-set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocation.
Bofinger
M K
MK
Division of Human Genetics, Children's Hospital Medical Center, University of Cincinnati, Ohio 45229.
Opitz
J M
JM
Soukup
S W
SW
Ekblom
L S
LS
Phillips
S
S
Daniel
A
A
Greene
E W
EW
D000015:Abnormalities, Multiple / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D005149:Facial Expression; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D014178:Translocation, Genetic