Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.
A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973-1974] and the deletion was estimated to be at least 3 megabases (Mb). His mother had 2 FMR-1 alleles with normal numbers of CGG repeats, 20 and 32, respectively. Thus, the deletion occurred as a de novo event. The patient does not appear to have clinical or laboratory findings other than those typically associated with fragile X syndrome, suggesting that the deletion does not remove other contiguous genes. This report describes the phenotype of the patient, including psychological studies.
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- Phenotype
- Male
- Karyotyping
- Infant
- Humans
- Gene Deletion
- Fragile X Syndrome
- Chromosome Fragility
- 3202 Clinical sciences
- 3105 Genetics
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Phenotype
- Male
- Karyotyping
- Infant
- Humans
- Gene Deletion
- Fragile X Syndrome
- Chromosome Fragility
- 3202 Clinical sciences
- 3105 Genetics