title: Partial trisomy 3p24.3 and partial monosomy 5p15.33: case report and a literature review.
abstract: We report on a preterm neonate with a deletion of the distal short arm of chromosome 5p15.33 and partial trisomy of the distal short arm of chromosome 3p24.3. The patient was the first-born monozygotic twin. There were no pertinent facial or physical features except a small lower lip hemangioma. The neonate presented with cardiac defects, which included a patent ductus arteriosus, an atrial septal defect and ventricular septal defects. After 94 days of age, however, the patient died from superior vena cava syndrome, recurrent chylothoraces and generalized anasarca. Array comparative genomic hybridization (aCGH) using a custom oligonucleotide microarray (Agilent 180,000 probe platform revealed a terminal duplication of 1,128 oligonucleotide probes from 3pter to 3p24.3, spanning approximately 20.4 megabases (Mb), and a terminal deletion of 271 oligonucleotide probes from 5pter to 5p15.33, spanning approximately 4.3 Mb. This is the first report of a patient with partial trisomy 3p24.3 and partial monosomy 5p15.33 without major dysmorphic features.
authors.affiliation: Department of Pediatrics, UMDNJ-Robert Wood Johnson, Medical School, New Brunswick, New Jersey 08903, USA. surasak1@aol.com
authors.forename: S
authors.initials: S
authors.lastname: Puvabanditsin
authors.forename: N
authors.initials: N
authors.lastname: Memon
authors.forename: G
authors.initials: G
authors.lastname: Lambert
authors.forename: G
authors.initials: G
authors.lastname: Cross
authors.forename: R
authors.initials: R
authors.lastname: El-Khawam
authors.forename: C
authors.initials: C
authors.lastname: Botti
authors.forename: J
authors.initials: J
authors.lastname: Balbin
mesh_terms: D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002916:Chylothorax / Q000150:complications / Q000175:diagnosis; D055028:Comparative Genomic Hybridization / Q000379:methods; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000150:complications / Q000175:diagnosis; D004487:Edema / Q000150:complications / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000175:diagnosis; D006345:Heart Septal Defects, Ventricular / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D013479:Superior Vena Cava Syndrome / Q000150:complications / Q000175:diagnosis; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*; D014430:Twins, Monozygotic