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.
Subject(s)
Chromosomes, Human, Pair 2/genetics , Chromosomes, Human, Pair 9/genetics , Monosomy/genetics , Trisomy/genetics , Chromosome Duplication , Humans , Infant, Newborn , KaryotypingSubject(s)
Anti-Inflammatory Agents, Non-Steroidal/administration & dosage , Granuloma, Plasma Cell/drug therapy , Histamine H2 Antagonists/administration & dosage , Ibuprofen/administration & dosage , Pancreatic Diseases/drug therapy , Ranitidine/administration & dosage , Child, Preschool , Drug Therapy, Combination , Humans , MaleABSTRACT
The management of acute scrotal swelling can be challenging in neonatal age, with scrotal infections being great mimickers of testicular torsion. Only a few unilateral cases of scrotal abscess have been previously reported, mostly caused by Staphylococcus and Salmonella. We describe the case of a newborn who developed bilateral scrotal abscesses caused by Klebsiella pneumoniae and discuss the rarity of the case, regarding both the bilaterality and the pathogen, never reported before.
