Abstract：
: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.
journal_name
J Genetjournal_title
Journal of geneticsauthors
Colangelo M,Alfonsi M,Palka C,Zio EZ,Renzo SD,Guanciali-Franchi P,Palka Gsubject
Has Abstractpub_date
2018-03-01 00:00:00pages
311-317issue
1eissn
0022-1333issn
0973-7731journal_volume
97pub_type
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