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- Title
Manifestations of a Terminal 5p Trisomy and a Terminal 6q Deletion Caused by an Unbalanced Chromosome Translocation in a Neonate.
- Authors
Ho, Timothy D.; Clark, Robin; Goldstein, Mitchell
- Abstract
This case report will focus on the clinical features found in a patient who was diagnosed with the combination of rare chromosomal abnormalities of a 5p trisomy and a 6q deletion due to an unbalanced translocation. These genetic anomalies have not been well documented, with previous cases numbering below 50 for 5p trisomy and 6q deletion individually. Trisomy 5p has been shown to display phenotypes such as long head length (dolichocephaly), large head circumference (macrocephaly) (1), ear malformations (2), and cardiac defects (3). Reports of the 6q deletion demonstrated structural brain malformations (4, 5, 6, 7, 8, 9), seizures (10, 11), facial abnormalities (12, 13, 14), and necrotizing enterocolitis (15).
- Subjects
HUMAN chromosome abnormalities; TRISOMY; DELETION mutation; DOLICHOCEPHALY; HEAD abnormalities; EAR abnormalities; HEART abnormalities; NEONATAL necrotizing enterocolitis
- Publication
Neonatology Today, 2018, Vol 13, Issue 11, p18
- ISSN
1932-7129
- Publication type
Case Study