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Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Dec; Vol. 161A (12), pp. 3144-9. Date of Electronic Publication: 2013 Aug 16. - Publication Year :
- 2013
-
Abstract
- We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3-4, feet 2-3), joint laxity, and short stature. The triplication resulted from the unusual combination of a terminal duplication at 17qter and a cryptic translocation of an extra copy of the same segment onto chromosome 10qter. The breakpoint at 17q25.3 was located within the FOXK2 gene. SNP chip analysis suggested that the rearrangement occurred during paternal meiosis involving both paternal chromosomes 17.<br /> (© 2013 Wiley Periodicals, Inc.)
- Subjects :
- Child
Chromosome Breakpoints
Chromosomes, Human, Pair 17 genetics
Dandy-Walker Syndrome physiopathology
Female
Forkhead Transcription Factors genetics
Humans
Infant, Newborn
Intellectual Disability physiopathology
Spasms, Infantile physiopathology
Syndactyly physiopathology
Tetrasomy genetics
Tetrasomy physiopathology
Dandy-Walker Syndrome genetics
Intellectual Disability genetics
Spasms, Infantile genetics
Syndactyly genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 161A
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 24039006
- Full Text :
- https://doi.org/10.1002/ajmg.a.36155