Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability
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- 作者：Jonathan D. J. Labonne ; Yiping Shen ; Il-Keun Kong…
- 关键词：1p microdeletion ; Intellectual disability ; Delayed psychomotor development ; Craniofacial anomalies ; DAB1 ; HOOK1 ; NFIA ; DOCK7 ; DNAJC6 ; PDE4B
- 刊名：Molecular Cytogenetics
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：9
- 期：1
- 全文大小：1,290 KB
- 刊物主题：Cytogenetics; Molecular Medicine;
- 出版者：BioMed Central
- ISSN：1755-8166
文摘
Background While chromosome 1 is the largest chromosome in the human genome, less than two dozen cases of interstitial microdeletions in the short arm have been documented. More than half of the 1p microdeletion cases were reported in the pre-microarray era and as a result, the proximal and distal boundaries containing the exact number of genes involved in the microdeletions have not been clearly defined.