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https://www.ias.ac.in/article/fulltext/jgen/097/01/0311-0317

duplication of 2q31.2 and 2q37.3; monosomy 9p; array CGH

We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings were negative for foetal malformations. Only a mild pyelectasis was reported. This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2–37.3 with monosomy 9p24.3.

MAURIZIA COLANGELO¹ MELISSA ALFONSI² CHIARA PALKA³ ELEONORA DI ZIO¹ SILVANA DI RENZO¹ PAOLO GUANCIALI-FRANCHI^{1 2} GIANDOMENICO PALKA^{1 2}

1. Department of Medical Genetics, University G. D’Annunzio, Chieti 65100, Italy
2. Department of Medical Genetics, SS Annunziata Hospital, Chieti 65100, Italy
3. Department of Pediatrics, University G. D’Annunzio, Chieti 65100, Italy

Published

March 2018

Manuscript received

10 November 2016

Manuscript revised

13 March 2017

Accepted

21 March 2017