Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
Joint Authors
Najafi, Kimia
Kariminejad, Roxana
Hosseini, Kaveh
Moshtagh, Azadeh
Abbassi, Gole Maryam
Sadatian, Neda
Bazrgar, Masood
Kariminejad, Ariana
Kariminejad, Mohamad Hassan
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-01-04
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Introduction.
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay.
It is caused by mutation in the PLP1 gene.
Case Description.
We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia.
Similar clinical findings were reported in his older brother and maternal uncle.
Both parents had normal phenotypes.
OA-CGH was performed and a 436 Kb duplication was detected and the diagnosis of PMD was made.
The mother was carrier of this 436 Kb duplication.
Conclusion.
Clinical presentation has been accepted as being the mainstay of diagnosis for most conditions.
However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive.
In this case, a diagnosis was reached by universal genomic testing, namely, whole genomic array.
American Psychological Association (APA)
Najafi, Kimia& Kariminejad, Roxana& Hosseini, Kaveh& Moshtagh, Azadeh& Abbassi, Gole Maryam& Sadatian, Neda…[et al.]. 2017. Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145338
Modern Language Association (MLA)
Najafi, Kimia…[et al.]. Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. Case Reports in Genetics No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1145338
American Medical Association (AMA)
Najafi, Kimia& Kariminejad, Roxana& Hosseini, Kaveh& Moshtagh, Azadeh& Abbassi, Gole Maryam& Sadatian, Neda…[et al.]. Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145338
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145338