<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Cytogenetic 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.</p></abstract>

Cytogenetic 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.

<italic>De Novo</italic> Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

The Blood Transfusion Organization Research Center, Tehran, Iran

Clinical Genetics Department, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

Balkan Journal of Medical Genetics

 Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

Cytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main...

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

Publié en ligne: 25 août 2010

Pages: 35 - 37

DOI: https://doi.org/10.2478/v10034-010-0016-6

Mots clés
Partial duplication of chromosome 7q

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