A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 501-504, 2016.
Article
in Zh
| WPRIM
| ID: wpr-247648
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.</p><p><b>CONCLUSION</b>A case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.</p>
Full text:
1
Database:
WPRIM
Main subject:
Chromosome Banding
/
In Situ Hybridization, Fluorescence
/
Oligonucleotide Array Sequence Analysis
/
Polymorphism, Single Nucleotide
/
Wolf-Hirschhorn Syndrome
/
Genetics
/
Karyotyping
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Newborn
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Document type:
Article