Clinical diagnosis of partial duplication 7q.
We report on two sibs with partial dup (7q), a retarded 9-month-old boy and an aborted fetus of 17 weeks' gestational age. Besides minor anomalies, the boy had frontal bossing, macrocephaly with hydrocephaly, a high forehead, and a large fontanelle. GTG banded chromosomes showed a 14p+ abnormality. Because his mother carries a balanced, de novo translocation with a breakpoint in band 7q33, the boy has a duplication of the distal portion of band 7q33 and the segment 7q34----qter. Our findings suggest that the phenotype in terminal duplications of 7q may, in some patients, be recognized clinically.
Bartsch
O
O
Department of Human Genetics, Medizinische Universität zu Lübeck, Federal Republic of Germany.
Kalbe
U
U
Ngo
T K
TK
Lettau
R
R
Schwinger
E
E
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic