A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21

I Lorda-Sanchez; M B Petersen; F Binkert; M Maechler; W Schmid; P A Adelsberger; S E Antonarakis; A Schinzel

doi:10.1007/BF01213092

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21

Hum Genet. 1991 May;87(1):54-6. doi: 10.1007/BF01213092.

Authors

I Lorda-Sanchez¹, M B Petersen, F Binkert, M Maechler, W Schmid, P A Adelsberger, S E Antonarakis, A Schinzel

Affiliation

¹ Institut für Medizinische Genetik der Universität, Zürich, Switzerland.

PMID: 1674717
DOI: 10.1007/BF01213092

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aneuploidy
Autoradiography
Blotting, Southern
Chromosomes, Human, Pair 21*
Down Syndrome / genetics*
Humans
Infant, Newborn
Klinefelter Syndrome / genetics*
Male
Polymorphism, Restriction Fragment Length
X Chromosome*