A CASE OF A MENTALLY DEFECTIVE MALE WITH XXYY SEX CHROMOSOME CONSTITUTION
| Autor: | Ishmael J, Laurence Km, Davies Ts |
|---|---|
| Rok vydání: | 1963 |
| Předmět: |
Chromosome Aberrations
medicine.medical_specialty Sex Chromosomes Mucoproteins Chromosome Chromosome Disorders Mentally deficient Biology Prominent frontal sinuses Chondroitin sulphate Endocrinology Klinefelter Syndrome Internal medicine Intellectual Disability Genetics medicine Etiology Humans Molecular Biology Genetics (clinical) |
| Zdroj: | Cytogenetics. 2 |
| ISSN: | 0011-4537 |
| Popis: | A case of a chromatin positive, mentally deficient 51 year old male who is clinically an example of Klinefelter’s syndrome and has a sex chromosome constitution of XXYY is described. He has some of the features of the four cases previously described by Muldal et al. (1962), Carr et al. (1961), Ellis et al. (1961) and Vague et al. (1961), but also has abnormalities of the serum mucoproteins and the urine chondroitin sulphate levels and very prominent frontal sinuses. The possible aetiology of the chromosome, biochemical and x-ray abnormalities are discussed. |
| Databáze: | OpenAIRE |
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