Abstract
To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age=0.51×chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 225-227 |
| Number of pages | 3 |
| Journal | Congenital Anomalies |
| Volume | 54 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Nov 1 2014 |
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All Science Journal Classification (ASJC) codes
- Medicine(all)
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Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome. / Yagihashi, Tatsuhiko; Torii, Chiharu; Takahashi, Reiko; Omori, Mikimasa; Kosaki, Rika; Yoshihashi, Hiroshi; Ihara, Masahiro; Minagawa-Kawai, Yasuyo; Yamamoto, Junichi; Takahashi, Takao; Kosaki, Kenjiro.
In: Congenital Anomalies, Vol. 54, No. 4, 01.11.2014, p. 225-227.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome
AU - Yagihashi, Tatsuhiko
AU - Torii, Chiharu
AU - Takahashi, Reiko
AU - Omori, Mikimasa
AU - Kosaki, Rika
AU - Yoshihashi, Hiroshi
AU - Ihara, Masahiro
AU - Minagawa-Kawai, Yasuyo
AU - Yamamoto, Junichi
AU - Takahashi, Takao
AU - Kosaki, Kenjiro
PY - 2014/11/1
Y1 - 2014/11/1
N2 - To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age=0.51×chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome.
AB - To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age=0.51×chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome.
UR - http://www.scopus.com/inward/record.url?scp=84933531903&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84933531903&partnerID=8YFLogxK
U2 - 10.1111/cga.12065
DO - 10.1111/cga.12065
M3 - Article
C2 - 24853877
AN - SCOPUS:84933531903
VL - 54
SP - 225
EP - 227
JO - Congenital Anomalies
JF - Congenital Anomalies
SN - 0914-3505
IS - 4
ER -