Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Journal article

During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 a...

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Authors: Hamel, B; Smits, A; de Graaff, E; Smeets, D; Schoute, F

• Journal: American journal of human genetics
• Volume: 55
• Issue: 5
• Pages: 923-931
• Publication date: 1994-11-01
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Adolescent; Male; Base Sequence; Molecular Sequence Data; Female; Repetitive Sequences, Nucleic Acid; X Chromosome; Chromosome Fragile Sites; Child; Middle Aged; In Situ Hybridization, Fluorescence; Fragile X Syndrome; Intelligence Tests; Mental Retardation; DNA; Chromosome Fragility; Pedigree; Humans; Adult; Phenotype