EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.
Familial cases (a grandfather, a father and a daughter) of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) are reported. All of them have a balanced reciprocal translocation (46,XY or XX, t(7;9) (q11.21;p12) or (46,XY or XX, t(7;9) (p11.2;q12)), but no other members of the family have either the EEC syndrome or chromosome abnormalities. This indicates that one of the chromosome sites 7q11.21, 9p12, 7p11.2 and 9q12 is a candidate for gene locus of the EEC syndrome.
Hasegawa
T
T
Department of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Hasegawa
Y
Y
Asamura
S
S
Nagai
T
T
Tsuchiya
Y
Y
Ninomiya
M
M
Fukushima
Y
Y
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004475:Ectoderm / Q000502:physiology*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014178:Translocation, Genetic / Q000235:genetics*