Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region

Journal Article · Fri Jul 15 00:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320510431· OSTI ID:62068

Trottier, Y; Imbert, G; Mandel, J L ^[1]; Fryns, J P ^[2]; Poustka, A ^[3]

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1. Institut de Chimie Biologique, Strasbourg (France)
2. Universitaire Ziekenhuizen, Leuven (Belgium)
3. Institut 06, Heidelberg (Germany)

We report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70-100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome. 16 refs., 3 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 62068
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 51; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
GENE MUTATIONS
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MENTAL DISORDERS
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
SIZE