title: Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease.
abstract: BACKGROUND
  Prenatal sonographic diagnosis of Optiz G/BBB syndrome is difficult because the common clinical features, such as hypertelorism, hypospadias and abnormalities of midline structures, including laryngotracheoesophageal defects, are subtle.
  
  
  METHODS
  Chromosomal microarray (CMA) analysis using a target enriched Fetal DNA Chip design was performed on the DNA of a fetus with congenital cardiac abnormalities.
  
  
  RESULTS
  Fetal DNA chip revealed a 48Kb single copy number loss within chromosome region Xp22.2 (arr[hg18]Xp22.2(10,627,354-10,675,946)x0 mat). This deletion included the 3' UTR region of the MID1 gene predicted to cause the X-linked Opitz G/BBB syndrome.
  
  
  CONCLUSIONS
  This case supports the use of CMA in prenatal diagnosis of fetuses with congenital heart disease. CMA allows prenatal diagnosis of genomic aberrations at a much higher resolution compared with conventional karyotyping, and such findings enable proper genetic counseling and decision making in the pregnancy.
authors.affiliation: Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong. Electronic address: yvonnecheng@cuhk.edu.hk.
authors.forename: Yvonne K Y
authors.initials: YK
authors.lastname: Cheng
authors.affiliation: Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong. Electronic address: huangjin@cuhk.edu.hk.
authors.forename: Jin
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong. Electronic address: lawkm@cuhk.edu.hk.
authors.forename: Kwok Ming
authors.initials: KM
authors.lastname: Law
authors.affiliation: Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong. Electronic address: chanyiuman@cuhk.edu.hk.
authors.forename: Yiu Man
authors.initials: YM
authors.lastname: Chan
authors.affiliation: Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong. Electronic address: tyleung@cuhk.edu.hk.
authors.forename: Tak Yeung
authors.initials: TY
authors.lastname: Leung
authors.affiliation: Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China. Electronic address: richardchoy@cuhk.edu.hk.
authors.forename: Kwong Wai
authors.initials: KW
authors.lastname: Choy
mesh_terms: D000328:Adult; D002877:Chromosomes, Human / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004947:Esophagus / Q000002:abnormalities*; D005260:Female; D005333:Fetus; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006331:Heart Diseases / Q000150:complications / Q000151:congenital*; D006801:Humans; D006972:Hypertelorism / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007021:Hypospadias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009035:Mothers; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
keywords: Heart disease; MID1; Microdeletion; X-linked Opitz G/BBB syndrome; aCGH