A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array.
- Author:
Yuxia JIN
1
;
Xia LIU
;
Suping LI
;
Chiyan ZHOU
;
Xiaodan LIU
;
Qinhao SONG
;
Luming WANG
;
Zhengyou MIAO
Author Information
- Publication Type:Case Reports
- MeSH: Chromosome Banding; Female; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Karyotyping; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Wolf-Hirschhorn Syndrome; genetics
- From: Chinese Journal of Medical Genetics 2016;33(4):501-504
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSG-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).
RESULTSG 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.
CONCLUSIONA 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.
