title: Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature.
abstract: The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis. The clinical features and locations of the 10q26 deletions of these patients were reviewed in an attempt to map or refine a critical region (CR) for phenotypes. Additionally, the association between previously suggested CRs and phenotypic variability was discussed. The current study emphasize that a distal 10q26 terminal deletion with a breakpoint at ~130 Mb may contribute to the common clinical features of 10q26 deletion syndrome.
authors: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Shaobin
authors: S
authors: Lin
authors: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Yi
authors: Y
authors: Zhou
authors: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Qun
authors: Q
authors: Fang
authors: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Jianzhu
authors: J
authors: Wu
authors: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Zhiqiang
authors: Z
authors: Zhang
authors: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Yuanjun
authors: Y
authors: Ji
authors: Fetal Medicine Center, Department of Obstetrics & Gynecology, The First Affiliated Hospital of Sun Yat‑Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Yanmin
authors: Y
authors: Luo
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D059785:Karyotype; D007859:Learning Disabilities / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D016216:Ultrasonography, Prenatal