Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3
MAURIZIA COLANGELO MELISSA ALFONSI CHIARA PALKA ELEONORA DI ZIO SILVANA DI RENZO PAOLO GUANCIALI-FRANCHI GIANDOMENICO PALKA
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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-FRANCHI1 2 GIANDOMENICO PALKA1 2
Volume 102, 2023
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