A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter?p22::p22?qter))
| Autor: | Marie Geneviève Mattei, H. Taramasco, Jean-François Mattei, F. Giraud, L. Aubert, C. Lucas |
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| Rok vydání: | 1977 |
| Předmět: |
Genetics
Pathology medicine.medical_specialty Sex Chromosomes X Chromosome Both ovaries Growth retardation Mosaicism media_common.quotation_subject Biology Human genetics Dicentric chromosome Karyotyping Chromosomes Human 21-22 and Y medicine Humans Female Lymphocytes Girl Child Growth Disorders Genetics (clinical) X chromosome media_common |
| Zdroj: | Human Genetics. 38:39-48 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature. |
| Databáze: | OpenAIRE |
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