Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3
| Autor: | Karl Hackmann, Jens Schallner, Konrad Oexle, Evelin Schröck, Anja Stadler, Andreas Rump, Sigrid Tinschert, Eva-Maria Gerlach, Christine Fauth, Kathlen Franke |
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| Rok vydání: | 2012 |
| Předmět: |
Microcephaly
Pediatrics medicine.medical_specialty Hearing loss Short stature Cutaneous syndactyly Chromosome Breakpoints Intellectual Disability Intellectual disability Genetics medicine Humans Syndactyly Child Genetics (clinical) business.industry Breakpoint Infant Newborn West Syndrome Forkhead Transcription Factors medicine.disease Tetrasomy Female medicine.symptom business Dandy-Walker Syndrome Spasms Infantile Chromosomes Human Pair 17 |
| Zdroj: | American journal of medical genetics. Part A. (12) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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