Developmental Abnormalities Associated with a Ring Chromosome 6
| Autor: | George H. Thomas, Charleen M. Moore, R. H. Heller |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1973 |
| Předmět: |
Microcephaly
Ring chromosome Case Reports Biology Ring (chemistry) Quinacrine Mustard Pregnancy Intellectual Disability Genetics medicine Leukocytes Humans Dermatoglyphics Genetics (clinical) Chromosome Aberrations Chromosomes Human 6-12 and X Autosome Age Factors Infant Newborn Infant Karyotype Fibroblasts medicine.disease Phenotype Child Preschool Face Karyotyping Female |
| Popis: | A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics. |
| Databáze: | OpenAIRE |
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