Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization.
- Author:
Chun-jiang ZHU
1
;
Zhi-yun HUANG
;
Wei-qing WU
;
Qin ZHAO
;
Hai-yan JIANG
;
Jian-sheng XIE
Author Information
- Publication Type:Journal Article
- MeSH: Abnormalities, Multiple; genetics; Adult; Chromosome Deletion; Chromosomes, Human, Pair 4; genetics; Chromosomes, Human, Pair 8; genetics; Comparative Genomic Hybridization; Female; Humans; Infant; Karyotyping; Male; Multiplex Polymerase Chain Reaction; methods; Oligonucleotide Array Sequence Analysis; Pedigree; Phenotype; Translocation, Genetic; Trisomy; Wolf-Hirschhorn Syndrome; diagnosis; genetics
- From: Chinese Journal of Pediatrics 2012;50(6):460-464
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques.
METHODG-band karyotyping was performed for all the 6 members in the family. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the chromosome abnormality for the proband, his father and brother. Microarray comparative genomic hybridization (Array-CGH) was carried out to map the exact chromosomal breakpoints for the proband.
RESULTThe proband presented with a typical face, delayed growth and hypotonia in Wolf-Hirschhorn syndrome. His G-band karyotype was 46, XY, der(4)t(4;8) (p16.2; p23.1)pat. MLPA showed 4pter loss and 8pter gain. Array-CGH revealed an XY male with a 3.781 Mb deletion of 4p16.3-p16.2 and a 6.760 Mb duplication of 8p23.3-p23.1. The proband's brother has mental retardation and skeletal abnormalities. His G-band karyotype was 46, XY, der(8)t(4;8)(p16.2;p23.1)pat. MLPA showed 4pter gain and 8pter loss. The proband's father had normal phenotype with a balanced translocation of 46, XY, t(4;8)(p16.2;p23.1)pat. MLPA showed a normal result. The proband's grandfather showed a normal phenotype with a balanced translocation 46, XY, t(4;8)(p16.2;p23.1). The other members in the family showed normal phenotypes with normal karyotypes.
CONCLUSIONThe proband has features of Wolf-Hirschhorn syndrome with partial monosomy 4p and partial trisomy 8p. The proband's brother has a partial trisomy 4p and partial monosomy 8p. The derived chromosomes are inherited from paternal balanced translocation t(4;8)(p16.2;p23.1).
