6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay

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

6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay

2013

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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Mots clés AGROVOC

chromosomes fish fluorescence genetics humans methods mutation mutation patients sequence analysis wound healing

Informations bibliographiques

Publié dans

Gene

Volume 523 Pagination 99 - 102 ISSN 0378-1119

Editeur

Elsevier B.V.

D'autres materias

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

Langue

anglais

Type

Journal Article; Text

Sur AGRIS depuis: 2024-02-28

Format: MODS

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Cette notice bibliographique a été fournie par National Agricultural Library

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DOI DOI http://dx.doi.org/10.1016/j.gene.2013.03.121

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6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay

2013

Mots clés AGROVOC

Informations bibliographiques