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 Sacharow, Mustafa Tekin, Deborah S Barbouth, Olaf Bodamer, Roman Yusupov, Cristina Navarrete, Ana H. Heller, Sérgio Dj Pena

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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
Article number38
JournalMolecular Cytogenetics
Volume6
Issue number1
DOIs
StatePublished - Sep 24 2013

Fingerprint

Consanguinity
Microarrays
Single Nucleotide Polymorphism
Pediatrics
Chromosomes
Genes
Uniparental Disomy
Developmental Disabilities
Defects
Inbreeding
Disabled Children
Genetic Counseling
Testing
Routine Diagnostic Tests
Cytogenetics
Intellectual Disability
Genome
Population

Keywords

  • Chromosome microarray
  • Consanguinity
  • Developmental disabilities

ASJC Scopus subject areas

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

Cite this

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. / Fan, Yao-Shan; Ouyang, Xiaomei; Peng, Jinghong; Sacharow, Stephanie; Tekin, Mustafa; Barbouth, Deborah S; Bodamer, Olaf; Yusupov, Roman; Navarrete, Cristina; Heller, Ana H.; Pena, Sérgio Dj.

In: Molecular Cytogenetics, Vol. 6, No. 1, 38, 24.09.2013.

Research output: Contribution to journalArticle

Fan, Yao-Shan ; Ouyang, Xiaomei ; Peng, Jinghong ; Sacharow, Stephanie ; Tekin, Mustafa ; Barbouth, Deborah S ; Bodamer, Olaf ; Yusupov, Roman ; Navarrete, Cristina ; Heller, Ana H. ; Pena, Sérgio Dj. / Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. In: Molecular Cytogenetics. 2013 ; Vol. 6, No. 1.
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