6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

Luisa Mackenroth*, Karl Hackmann, Anke Beyer, Jens Schallner, Barbara Novotna, Barbara Klink, Evelin Schröck, Nataliya Di Donato

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

3 Citations (Scopus)

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 1Mb in this region. Main clinical features include mild intellectual disability and behavioral abnormalities as well as microcephaly, heart defect, and cleft lip and palate.

Original languageEnglish
Pages (from-to)2800-2807
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
Publication statusPublished - Nov 2015
Externally publishedYes

Keywords

  • 6q22.33 microdeletion
  • CNV
  • Intellectual disability
  • Variable phenotype

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