Affiliation:
1. The Blood Transfusion Organization Research Center, Tehran, Iran1
Abstract
De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.
Subject
Genetics (clinical),Genetics
Reference9 articles.
1. Partial Trisomy of 7q: case report and literature review;B. Scelsa;J Child Neurol,2008
2. Partial trisomy 7 (q32-qter) syndrome in two children;D. Couzin;J Med Genet,1986
3. Syndrome of facial, oral, and digital anomalies due to 7q21.2→q22.1 duplication;T. Lukusa;Am J Med Genet,1998
4. Pericentric inversion with partial 7(q35→qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient;T. Lukusa;Genet Couns,2002
5. Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7;D. Romain;J Med Genet,1990