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 |
|---|---|
| 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 |
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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)
Cite this
De novo partial duplication of chromosome 7p in a male with autistic disorder. / Wolpert, C. M.; Donnelly, S. L.; Cuccaro, Michael; Hedges, D. J.; Poole, C. P.; Wright, H. H.; Gilbert, John; Pericak-Vance, Margaret A.
In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 105, No. 3, 08.04.2001, p. 222-225.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - De novo partial duplication of chromosome 7p in a male with autistic disorder
AU - Wolpert, C. M.
AU - Donnelly, S. L.
AU - Cuccaro, Michael
AU - Hedges, D. J.
AU - Poole, C. P.
AU - Wright, H. H.
AU - Gilbert, John
AU - Pericak-Vance, Margaret A
PY - 2001/4/8
Y1 - 2001/4/8
N2 - 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.
AB - 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.
KW - Autistic disorder
KW - Craniofacial abnormalities
KW - HOXA1 gene
KW - Inverted duplication 7p
KW - Partial trisomy 7p
UR - http://www.scopus.com/inward/record.url?scp=0035826462&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035826462&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1258
DO - 10.1002/ajmg.1258
M3 - Article
VL - 105
SP - 222
EP - 225
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
SN - 1552-4841
IS - 3
ER -