Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13).
We report on cases of Greig syndrome segregating in a large kindred over four generations due to reciprocal translocation t(6;7)(q27;p13) and on a patient from this pedigree with a severe malformation syndrome due to duplication 7(p13----pter). The clinical findings are discussed as possible consequence of a gene mutation due to the break at 7p13.
Krüger
G
G
Children's University Hospital, Wilhelm Pieck University, Rostock, German Democratic Republic.
Götz
J
J
Kvist
U
U
Dunker
H
H
Erfurth
F
F
Pelz
L
L
Zech
L
L
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000886:Anthropometry; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D015342:DNA Probes; D005147:Facial Bones / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic
D015342:DNA Probes