A case of 'g 2 deletion syndrome': ring or partial monosomy? (46,XX,22r or 46,XX,22p- ?)
| Autor: | F Saccucci, Burroni M, M Milani-Comparetti, Magistrelli R, D P Pace, V Rossolini |
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| Rok vydání: | 1975 |
| Předmět: |
Genetics
Chromosome Aberrations Monosomy Sex Characteristics Ear abnormalities Karyotype Chromosome Disorders Ear General Medicine Syndrome Biology medicine.disease Ring (chemistry) Karyotyping Centromere medicine Chromosomes Human 21-22 and Y Humans Deletion syndrome Female Chromosome Deletion Dermatoglyphics Chromosome 22 |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0001-5660 |
| Popis: | A case of “G 2 Deletion Syndrome” is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition of the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypothesis of deletion of the short arm extending into the centromere. |
| Databáze: | OpenAIRE |
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