A familial interstitial deletion of the long arm of chromosome 21
| Autor: | D. I. Hoar, A. S. Robertson, S. B. Fowlow, B. Roland, D. M. Cox |
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| Rok vydání: | 1990 |
| Předmět: |
Adolescent
Chromosomes Human Pair 21 media_common.quotation_subject Biology Long arm chemistry.chemical_compound Intellectual Disability Genetics Humans Abnormalities Multiple Genetics (clinical) media_common Daughter Infant Newborn Chromosome Chromosome Mapping Middle Aged Molecular biology Molecular analysis Chromosome 17 (human) chemistry Female Chromosome Deletion Chromosome 21 DNA Probes Chromosome 22 DNA |
| Zdroj: | Clinical genetics. 37(6) |
| ISSN: | 0009-9163 |
| Popis: | A mother and daughter with an interstitial deletion of the chromosome segment 21q11 to 21q21.3 have similar minor dysmorphism and mild mental retardation. These two patients are compared to others in the literature with deletion of the same region of chromosome 21. Molecular analysis of DNA from our patients localizes the DNA segments D21S1, D21S11, D21S8, and D21S22 within the deleted region. |
| Databáze: | OpenAIRE |
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