Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.

Details

Serval ID
serval:BIB_99431F2510D9
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.
Journal
American Journal of Medical Genetics
Author(s)
Harrison K.J., Teshima I.E., Silver M.M., Jay V., Unger S., Robinson W.P., James A., Levin A., Chitayat D.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Publication state
Published
Issued date
1998
Volume
79
Number
2
Pages
103-107
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Abstract
We report on a newborn infant with a de novo triplication of the distal segment of 5p: 46,XX,trp(5) (pter-->p14::p14-->p15.33::p15.33--> qter) and multiple congenital anomalies consistent with triplication of 5p. Partial triplication was documented by fluorescence in situ hybridization with a cosmid probe specific for 5p15.2 and microdissected probes obtained from "5pter." Partial duplication of the short arm of chromosome 5 is associated with a specific phenotype that appears to be dependent on the chromosomal region duplicated. Duplication of 5p with breakpoints proximal to band p14 is generally associated with distinct craniofacial malformations, cardiac, renal, intestinal, and limb defects, and mental retardation, whereas duplications with breakpoints distal to 5p14 result in a milder phenotype characterized by minor facial anomalies, developmental delay, and seizures. The most proximal breakpoints of the partial triplication in this patient was estimated to be 5p14, suggesting that a more severe phenotype can occur with triplication of the more distal segment.
Keywords
Abnormalities, Multiple/genetics, Abnormalities, Multiple/physiopathology, Brain/abnormalities, Brain/pathology, Chromosome Aberrations, Chromosome Banding, Chromosome Disorders, Chromosomes, Human, Pair 5, Cytogenetics, Eye Abnormalities/genetics, Eye Abnormalities/pathology, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn
Pubmed
Web of science
Create date
20/06/2015 12:01
Last modification date
20/08/2019 15:00
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