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Am J Med Genet. 1990 Oct;37(2):254-7.

Clinical diagnosis of partial duplication 7q.

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  • 1Department of Human Genetics, Medizinische Universit├Ąt zu L├╝beck, Federal Republic of Germany.


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.

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