Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease

Clin Chim Acta. 2014 Sep 25:436:140-2. doi: 10.1016/j.cca.2014.05.006. Epub 2014 May 23.


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.

Method: 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.

Keywords: Heart disease; MID1; Microdeletion; X-linked Opitz G/BBB syndrome; aCGH.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human / genetics*
  • Cleft Palate / complications
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics
  • Esophagus / abnormalities*
  • Female
  • Fetus*
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Heart Diseases / complications
  • Heart Diseases / congenital*
  • Humans
  • Hypertelorism / complications
  • Hypertelorism / diagnosis*
  • Hypertelorism / genetics
  • Hypospadias / complications
  • Hypospadias / diagnosis*
  • Hypospadias / genetics
  • Male
  • Mothers*
  • Oligonucleotide Array Sequence Analysis*
  • Pregnancy
  • Prenatal Diagnosis / methods*

Supplementary concepts

  • Opitz GBBB Syndrome, X-Linked