Lorda-Sanchez, Isabel; Petersen, Michael B; Binkert, Franz; Maechler, Marco; Schmid, Werner; Adelsberger, Patricia A; Antonarakis, Stylianos E; Schinzel, Albert (1991). A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Human Genetics, 87(1):54-56.
The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events.
The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events.
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > Institute of Medical Genetics |
| Dewey Decimal Classification: | 570 Life sciences; biology
610 Medicine & health |
| Scopus Subject Areas: | Life Sciences > Genetics
Health Sciences > Genetics (clinical) |
| Uncontrolled Keywords: | Genetics (clinical), Genetics, Down syndrome, Klinefelter syndrome, Down syndrome |
| Language: | English |
| Date: | 1 January 1991 |
| Deposited On: | 26 Jan 2023 06:36 |
| Last Modified: | 27 Jan 2023 21:02 |
| Publisher: | Springer |
| ISSN: | 0340-6717 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1007/bf01213092 |
| PubMed ID: | 1674717 |
| Other Identification Number: | Corpus ID: 37994362 |
Lorda-Sanchez, Isabel