Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques
Joint Authors
Venegas-Vega, Carlos A.
Fernández-Ramírez, Fernando
Zepeda, Luis M.
Nieto-Martínez, Karem
Gómez-Laguna, Laura
Garduño-Zarazúa, Luz M.
Berumen, Jaime
Kofman, Susana
Cervantes, A.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-02-03
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes.
We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype.
Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15.
Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb).
Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.
American Psychological Association (APA)
Venegas-Vega, Carlos A.& Fernández-Ramírez, Fernando& Zepeda, Luis M.& Nieto-Martínez, Karem& Gómez-Laguna, Laura& Garduño-Zarazúa, Luz M.…[et al.]. 2013. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques. BioMed Research International،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1003711
Modern Language Association (MLA)
Venegas-Vega, Carlos A.…[et al.]. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques. BioMed Research International No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-1003711
American Medical Association (AMA)
Venegas-Vega, Carlos A.& Fernández-Ramírez, Fernando& Zepeda, Luis M.& Nieto-Martínez, Karem& Gómez-Laguna, Laura& Garduño-Zarazúa, Luz M.…[et al.]. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1003711
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1003711