Scope for more genetic testing in learning disability: Case report of an inherited duplication on the X-chromosome

British Journal of Psychiatry

Volumn 189, Issue AUG., 2006, Pages 99-101

  Robertshaw, B A ^a   MacPherson, J ^b  

^a Sniperley House Learning Disability Centre   (United Kingdom)

^b Muckamore Abbey Hospital   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 22P; CHROMOSOME ANALYSIS; CLINICAL ASSESSMENT; CLINICAL FEATURE; DISEASE SEVERITY; EPILEPSY; FEMALE; FRAGILE X SYNDROME; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; INTELLIGENCE QUOTIENT; KARYOTYPE 46,XX; LEARNING DISORDER; WECHSLER INTELLIGENCE SCALE;

ADULT; CHROMOSOMES, HUMAN, X; DISEASES IN TWINS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; GENETIC TESTING; HUMANS; LEARNING DISORDERS; MALE; MENTAL RETARDATION, X-LINKED; PEDIGREE; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; TRISOMY;

EID: 33747199972     PISSN: 00071250     EISSN: None     Source Type: Journal    
DOI: 10.1192/bjp.189.2.99     Document Type: Article

References (17)

1. Boycott, K. M., Parslow, M. I., Ross, J. L., et al (2003) A familial contiguous gene deletion syndrome at Xp22.3 characterised by severe learning disabilities and ADHD. Journal of Medical Genetics, 122, 139-147.
2. Cianchetti, C., Muntoni, F., Falchi, A. M., et al (1992) X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter. American Journal of Medical Genetics, 43, 475-478.
3. Gecz, J. & Mulley, J. (2000) Genes for cognitive function: developments on the X. Genome Research, 10, 157-163.
4. Gostason, R., Wahlstrom, J., Johannisson, T., et al (1991) Chromosomal aberrations in the mildly mentally retarded. Journal of Mental Deficiency Research, 35, 240-246.
5. Kleefttra, T., Yntema, H. G., Oudakker, A., et al (2002) Localisation of a gene for non-specific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. American Journal of Medical Genetics, 110, 410-411.
6. Lehrke, R. (1997) Sex Linkage of Inheritance - The X Factor. Westport, CT: Praeger.
7. Martinez, F., Gal, A., Palau, F., et al (1995) Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3. American Journal of Medical Genetics, 55, 387-390.
8. Muroya, K., Kosho, T., Ogata, T., et al (1999) Female carriers of Xp22.3 deletion including MRX locus. American Journal of Medical Genetics, 84, 384-385.
9. Partington, M., Mowat, D., Einfeld, S., et al (2000) Genes on the X chromosome are important in undiagnosed mental retardation. American Journal of Medical Genetics, 92, 57-61.
10. Reichenbach, H., Holland, H., Thamm, B., M et al (1993) Multiple abnormalities in a child with male karyotype due to familial partial Xp duplication. Kinderarztliche Praxis, 61, 291-295.
11. Stevenson, R. E. & Swartz, C. E. (2002) Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenic and Genome Research, 99, 265-275
12. Telvi, L., Ion, A., Carel, J. C., et al (1996) A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation and multiple congenital abnormalities. journal of Medical Genetics, 33, 767-771.
13. Thapar, A., Gottesman, I. I., Owen, M. J., et al (1994) The genetics of mental retardation. British Journal of Psychiatry, 164, 747-758.
14. Tuck-Muller, C. M., Martinez, J. E., Batista, D. A. S., et al (2003) Duplication of the short arm of the X chromosome in mother and daughter. Human Genetics, 91, 395-400.
15. Tariverdian, G. & Vogel, F. (2000) Some problems in the genetics of X-linked mental retardation. Cytogenetics and Cell Genetics, 91, 278-284.
16. Turner, G. (1996) Intelligence and the X-chromosome. Lancet, 347, 1814-1815.
17. Wechsler, D. (1981) Wechsler Adult Intelligence Scale-Revised (WAIS-R) Manual. Cleveland, OH: Psychological Corporation/Harcourt Brace Jovanovich.