Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome

We report on a boy with a direct tandem duplication of 9(q12‐q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5...

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Veröffentlicht in:	American journal of medical genetics 1993-02, Vol.45 (4), p.456-459
Hauptverfasser:	Stalker, Heather J., Aymé, Ségolène, Delneste, Daniele, Scarpelli, Hélène, Vekemans, Michel, Der Kaloustian, Vazken M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences case reports chromosome 9 Chromosome aberrations Chromosomes, Human, Pair 9 direct duplication duplication Failure to Thrive Hand Deformities, Congenital - genetics Humans Infant, Newborn karyotype-phenotype correlations Karyotyping Male man Medical genetics Medical sciences Multigene Family Nose - abnormalities Scrotum - abnormalities Syndrome Trisomy trisomy 9q trisomy 9q syndrome
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