Ontology highlight
ABSTRACT:
SUBMITTER: Rezek RF
PROVIDER: S-EPMC4260438 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Rezek Regina Ferreira RF Rodrigues Abbas Ana Angélica AA Forte Mazzeu Juliana J Duarte Miranda Siliana Maria SM Velloso-Rodrigues Cibele C
Case reports in dentistry 20141125
We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also c ...[more]