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Case report of newborn with <bold><italic>de novo</italic></bold> partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Authors :
Colangelo, Maurizia
Alfonsi, Melissa
Palka, Chiara
Zio, Eleonora Di
Renzo, Silvana Di
Guanciali-Franchi, Paolo
Palka, Giandomenico
Source :
Journal of Genetics; Mar2018, Vol. 97 Issue 1, p311-317, 7p
Publication Year :
2018

Abstract

We describe a newborn female with a &lt;italic&gt;de novo&lt;/italic&gt; duplication of chromosomes 2q31.2 and 2q37.3, and a &lt;italic&gt;de novo&lt;/italic&gt; 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00221333
Volume :
97
Issue :
1
Database :
Complementary Index
Journal :
Journal of Genetics
Publication Type :
Academic Journal
Accession number :
129154550
Full Text :
https://doi.org/10.1007/s12041-017-0879-3