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 language | English |
|---|---|
| Article number | 38 |
| Journal | Molecular Cytogenetics |
| Volume | 6 |
| Issue number | 1 |
| DOIs | |
| State | Published - Sep 24 2013 |
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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 journal › Article
}
TY - JOUR
T1 - Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray
AU - Fan, Yao-Shan
AU - Ouyang, Xiaomei
AU - Peng, Jinghong
AU - Sacharow, Stephanie
AU - Tekin, Mustafa
AU - Barbouth, Deborah S
AU - Bodamer, Olaf
AU - Yusupov, Roman
AU - Navarrete, Cristina
AU - Heller, Ana H.
AU - Pena, Sérgio Dj
PY - 2013/9/24
Y1 - 2013/9/24
N2 - 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.
AB - 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.
KW - Chromosome microarray
KW - Consanguinity
KW - Developmental disabilities
UR - http://www.scopus.com/inward/record.url?scp=84884342502&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84884342502&partnerID=8YFLogxK
U2 - 10.1186/1755-8166-6-38
DO - 10.1186/1755-8166-6-38
M3 - Article
C2 - 24053112
AN - SCOPUS:84884342502
VL - 6
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
SN - 1755-8166
IS - 1
M1 - 38
ER -