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: Matthew Vanlandingham, Tuan V Nguyen, Omar A Abdul-Rahman, Andrew Parent, Jun Zhang
• Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 29 Issue 6 Pg. 467-70 (Dec 2008) ISSN: 1590-1874 [Print] Italy
• PMID: 19039519 (Publication Type: Case Reports, Journal Article)

Topics

• Brain (abnormalities, diagnostic imaging)
• Branchial Region (abnormalities)
• Chromosome Aberrations
• Chromosomes, Human, Pair 4 (genetics)
• Chromosomes, Human, Pair 9 (genetics)
• Congenital Abnormalities (genetics, pathology, physiopathology)
• DNA Mutational Analysis
• Fatal Outcome
• Female
• Humans
• Hydrocephalus (genetics, pathology, physiopathology)
• Infant
• Infant, Newborn
• Male
• Monosomy (genetics)
• Nervous System Malformations (diagnostic imaging, genetics, pathology)
• Phenotype
• Radiography
• Respiratory Insufficiency (etiology)
• Siblings
• Syndrome
• Trisomy (genetics)