title: Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings.
abstract: In this case report, we describe two siblings with a previously unreported partial monosomy 4q and partial trisomy 9q. The sibling karyotypes were determined to be 46,XX,der(4)t(4;9)(q33;q33)pat and 46,XY,der(4)t(4;9)-(q33;q33)pat. The siblings share several common pathological features, including VSD, PDA, low-set ears and digit anomalies as well as features consistent with Pierre-Robin syndrome and hydrocephalus. We review previously reported phenotypes associated with monosomy 4q and partial trisomy 9q and discuss potential mechanisms for these morphological insults with particular emphasis on neuropathology.
authors.affiliation: Department of Neurosurgery, University of Mississippi Medical Center, 2500 N. State Street, Jackson, MS, 39216-4505, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Vanlandingham
authors.forename: Tuan V
authors.initials: TV
authors.lastname: Nguyen
authors.forename: Omar A
authors.initials: OA
authors.lastname: Abdul-Rahman
authors.forename: Andrew
authors.initials: A
authors.lastname: Parent
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
mesh_terms: D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D001934:Branchial Region / Q000002:abnormalities; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy / Q000235:genetics*; D009421:Nervous System Malformations / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D011859:Radiography; D012131:Respiratory Insufficiency / Q000209:etiology; D035781:Siblings; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*