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| FRAXE AND MENTAL-RETARDATION |
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| Author(s): MULLEY JC, YU S, LOESCH DZ, HAY DA, DONNELLY A, GEDEON AK, CARBONELL P, LOPEZ I, GLOVER G, GABARRON I, YU PWL, BAKER E, HAAN EA, HOCKEY A, KNIGHT SJL, DAVIES KE, RICHARDS RI, SUTHERLAND GR |
| Source: JOURNAL OF MEDICAL GENETICS Volume: 32 Issue: 3 Pages: 162-169 Published: MAR 1995 |
| Times Cited: 70 References: 29 |
| Abstract: Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was found within one of these kindreds. Cytogenetic expression of FRAXE was shown to skip a generation when associated with a reduction in size of the CCG expansion when transmitted through a male; however, in general, transmission occurred through females and copy number increased from one generation to the next. In these respects the behaviour of FRAXE paralleled that of FRAXA. A relationship between FRAXE and non-specific mental impairment is strongly suggested by the occurrence in these families of more mentally impaired male and female carriers, after removal of index cases, than could reasonably be expected by chance. |
| Document Type: Article |
| Language: English |
| Reprint Address: MULLEY, JC (reprint author), WOMENS & CHILDRENS HOSP, CTR MED GENET CYTOGENET & MOLEC GENET, ADELAIDE, SA 5006 AUSTRALIA |
Addresses:
1. UNIV ADELAIDE, DEPT GENET, ADELAIDE, SA AUSTRALIA
2. WOMENS & CHILDRENS HOSP, DEPT GENET & EPIDEMIOL, ADELAIDE, SA 5006 AUSTRALIA
3. LA TROBE UNIV, DEPT PSYCHOL, MELBOURNE, VIC 3083 AUSTRALIA
4. MENTAL HLTH RES INST VICTORIA, NH & MRC, SCHIZOPHRENIA RES UNIT, PARKVILLE, VIC AUSTRALIA
5. CTR BIOQUIM & GENET CLIN, UNIDAD GENET HUMANA, E-30100 MURCIA, SPAIN
6. PRINCESS MARGARET HOSP CHILDREN & IRRABEENA, GENET SERV, PERTH, WA 6005 AUSTRALIA
7. JOHN RADCLIFFE HOSP, INST MOLEC MED, MOLEC GENET GRP, OXFORD OX3 9DU, ENGLAND |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Genetics & Heredity |
| IDS Number: QN136 |
| ISSN: 0022-2593 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |