A 6q14.1‐q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, a...
A 6q14.1‐q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain
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Author / Creator
Publisher
England: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
England: John Wiley & Sons, Inc
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Scope and Contents
Contents
Key Clinical Message
We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1‐q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathogenicity is under debate.
Alternative Titles
Full title
A 6q14.1‐q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4498854
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4498854
Other Identifiers
ISSN
2050-0904
E-ISSN
2050-0904
DOI
10.1002/ccr3.255
