Abstract
We describe a de novo partial duplication of 7p in a 25-year-old male with autistic disorder (AD). High-resolution chromosome analysis revealed an extra segment added to the proximal short arm of chromosome 7. The G-band pattern was consistent with an inverted duplication of 7pll.2-p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UK), confirmed that the extra chromo some material is derived from chromosome 7, indicating that the patient is partially trisomic for a region of the short arm of chromosome 7. Partial duplication of the short arm of chromosome 7 is uncommon with little more than 30 cases in the literature. This is the first report of an individual with a 7p duplication who also has AD.
Original language | English (US) |
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Pages (from-to) | 222-225 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics - Neuropsychiatric Genetics |
Volume | 105 |
Issue number | 3 |
DOIs | |
State | Published - Apr 8 2001 |
Externally published | Yes |
Keywords
- Autistic disorder
- Craniofacial abnormalities
- HOXA1 gene
- Inverted duplication 7p
- Partial trisomy 7p
ASJC Scopus subject areas
- Genetics(clinical)
- Neuropsychology and Physiological Psychology
- Neuroscience(all)