title: [Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
abstract: OBJECTIVE
  To confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques.
  
  
  METHODS
  G-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.
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  The 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).
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Guilin Medical College, Guilin, China.
authors.forename: Chun-jiang
authors.initials: CJ
authors.lastname: Zhu
authors.forename: Zhi-yun
authors.initials: ZY
authors.lastname: Huang
authors.forename: Wei-qing
authors.initials: WQ
authors.lastname: Wu
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhao
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Jiang
authors.forename: Jian-sheng
authors.initials: JS
authors.lastname: Xie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis* / Q000235:genetics