Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH : Case Reports
Joint Authors
Sheth, Jayesh J.
Sheth, Frenny J.
Akinde, Olakanmi
Adeteye, Olawaleye
Datar, C.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-22
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region.
A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS.
The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype.
The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions.
The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH).
American Psychological Association (APA)
Sheth, Frenny J.& Akinde, Olakanmi& Datar, C.& Adeteye, Olawaleye& Sheth, Jayesh J.. 2012. Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH : Case Reports. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-505594
Modern Language Association (MLA)
Sheth, Frenny J.…[et al.]. Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH : Case Reports. Case Reports in Genetics No. 2012 (2012), pp.1-5.
https://search.emarefa.net/detail/BIM-505594
American Medical Association (AMA)
Sheth, Frenny J.& Akinde, Olakanmi& Datar, C.& Adeteye, Olawaleye& Sheth, Jayesh J.. Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH : Case Reports. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-505594
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-505594