Array-CGH

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil

G. S. Vianna, Medeiros, P. F. V., Alves, A. F., Silva, T. O., Jehee, F. S., Vianna, G. S., Medeiros, P. F. V., Alves, A. F., Silva, T. O., and Jehee, F. S., Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil, vol. 15, p. -, 2016.

In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated using the array-CGH test. Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER).

Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

Y. Soysal, Vermeesch, J., Davani, N. A., Şensoy, N., Hekimler, K., and Imirzalıoğlu, N., Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech, vol. 10. pp. 2148-2154, 2011.

We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications.

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