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- W1903312912 abstract "Interstitial deletions on the long arm of chromosome six have been described for several regions including 6q16, 6q22.1, and 6q21q22.1, and with variable phenotypes such as intellectual disability/developmental delay, growth retardation, major and minor facial anomalies. However, an isolated microdeletion of the sub-band 6q22.33 has not been reported so far and thus, no information about the specific phenotype associated with such a copy number variant is available. Here, we define the clinical picture of an isolated 6q22.33 microdeletion based on the phenotype of six members of one family with loss of approximately 1 Mb in this region. Main clinical features include mild intellectual disability and behavioral abnormalities as well as microcephaly, heart defect, and cleft lip and palate." @default.
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- W1903312912 date "2015-09-03" @default.
- W1903312912 modified "2023-10-16" @default.
- W1903312912 title "6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities" @default.
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- W1903312912 doi "https://doi.org/10.1002/ajmg.a.37266" @default.
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