期刊
JOURNAL OF PEDIATRIC GENETICS
卷 -, 期 -, 页码 -出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0041-1736613
关键词
7q21 deletion; ectrodactyly; osteogenesis imperfecta; split foot malformation; SHFM
类别
The loss of 7q21 copy number variation and whole gene deletions of COL1A2 lead to different genetic disorders, highlighting the importance of using microarray analysis to identify the genetic etiology in patients with ectrodactyly and osteogenesis imperfecta.
Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene deletions of COL1A2 is a very rare condition. We report a Turkish girl with ectrodactyly, joint laxity, multiple bone fractures, blue sclera, early teeth decay, mild learning disability, and depression. A copy number variant in loss of 4.8Mb at chromosome 7 ( q21.2q21.3) included the 58 genes including DLX5, DLX6, DYNC1I1, SLC25A13, SGCE, and COL1A2. They were identified by chromosomal microarray analysis. We compared the findings in our patients with those previously reported. This case report highlights the importance of using microarray to identify the genetic etiology in patients with ectrodactyly and osteogenesis imperfecta.
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