Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

Yao Shan Fan, Xiaomei Ouyang, Jinghong Peng, Stephanie Cohn Sacharow, Mustafa Tekin, Deborah Barbouth, Olaf Bodamer, Roman Yusupov, Christina Navarrete, Ana H. Heller, Sérgio Dj Pena

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Background: Genomic microarrays have been used as the first-tier cytogenetic diagnostic test for patients with developmental delay/intellectual disability, autism spectrum disorders and/or multiple congenital anomalies. The use of SNP arrays has revealed regions of homozygosity in the genome which can lead to identification of uniparental disomy and parental consanguinity in addition to copy number variations. Consanguinity is associated with an increased risk of birth defects and autosomal recessive disorders. However, the frequency of parental consanguinity in children with developmental disabilities is unknown, and consanguineous couples may not be identified during doctor's visit or genetic counseling without microarray. Results: We studied 607 proband pediatric patients referred for developmental disorders using a 4 × 180 K array containing both CGH and SNP probes. Using 720, 360, 180, and 90 Mb as the expected sizes of homozygosity for an estimated coefficient of inbreeding (F) 1/4, 1/8, 1/16, 1/32, parental consanguinity was detected in 21cases (3.46%). Conclusion: Parental consanguinity is not uncommon in children with developmental problems in our study population, and can be identified by use of a combined CGH and SNP chromosome microarray. Identification of parental consanguinity in such cases can be important for further diagnostic testing.

Original languageEnglish (US)
Article number38
JournalMolecular Cytogenetics
Issue number1
StatePublished - 2013


  • Chromosome microarray
  • Consanguinity
  • Developmental disabilities

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical


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