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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.
- Source :
- Journal of Genetics; Mar2018, Vol. 97 Issue 1, p311-317, 7p
- Publication Year :
- 2018
-
Abstract
- We describe a newborn female with a <italic>de novo</italic> duplication of chromosomes 2q31.2 and 2q37.3, and a <italic>de novo</italic> 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