A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21
- Lorda-Sanchez, Isabel
- Petersen, Michael B
- Binkert, Franz
- Maechler, Marco
- Schmid, Werner
- Adelsberger, Patricia A
- Antonarakis, Stylianos E
- Schinzel, Albert
DOIAbstract
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
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