Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY
Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY
About this item
Full title
Author / Creator
Guzel, A , Demirhan, O , Pazarbasi, A and Yuksel, B
Publisher
Sofia: Versita
Journal title
Language
English
Formats
Publication information
Publisher
Sofia: Versita
Subjects
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Scope and Contents
Contents
Polysomy 49, XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects and genital abnormalities. We describe a patient with 49, XXXXY syndrome who had many characteristics of Fraccaro syndrome; language impairment, mongoloid slant, epicant...
Alternative Titles
Full title
Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ce5ae043ec5a4cc8bfa068f2cd0c8da2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ce5ae043ec5a4cc8bfa068f2cd0c8da2
Other Identifiers
ISSN
1311-0160
E-ISSN
2199-5761
DOI
10.2478/v10034-009-0003-y
