6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay
2013
Chen, Chih-Ping | Lin, Shuan-Pei | Liu, Yu-Peng | Chern, Schu-Rern | Wu, Peih-Shan | Chen, Yu Ting | Su, Jun-Wei | Lee, Chen-Chi | Wang, Wayseen
We present an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay, poor wound healing and a 6p21.2–p12.3 deletion detected by aCGH. The patient was previously found to have a normal karyotype on conventional cytogenetic analysis and no RUNX2 mutation on sequence analysis. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of CUL7, VEGFA, NFKBIE and RUNX2 in this case.
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书目信息
出版者
Elsevier B.V.
其它主题
Cullin proteins; Ncbi; Del; Girls; Core binding factor alpha 1 subunit; Bac; Nfkbie; Ccd; Cleidocranial dysplasia; Tissue repair; Pair 6; Human; Karyotyping; 6p21.2–p12.3 deletion; Child; In situ hybridization; Runx2; Omim; Female; Haploinsufficiency; Qf-pcr; Developmental disabilities; Phenotype; Acgh; Metaphase; Genetic association studies; Vegfa; I-kappa b proteins; Comparative genomic hybridization; Cul7; Cleidocranial dysplasia; Chromosome deletion; Proto-oncogene proteins; Vascular endothelial growth factor a
语言
英语
类型
Journal Article; Text
2024-02-28
MODS