Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically

Journal Article · Tue Feb 01 04:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320490333· OSTI ID:96088

Blouin, J L; Antonarakis, S E ^[1]; Binkert, F ^[2]

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1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)
2. Univ. of Zurich Medical School, Zurich (Switzerland)

Robertsonian translocations between acrocentric chromosomes are the most common structural chromosomal rearrangements in humans and many other organisms, and several mechanisms for their formation have been proposed. The authors have analyzed highly informative DNA polymorphisms in a family with a nonmosaic de novo Robertsonian translocation 21q;21q, to determine the parental origin of the two 21q arms of the rearranged chromosome. The genotypes indicated a biparental origin, i.e. one 21q was paternal and the other maternal. These results imply that in some cases the formation of the rob (21q;21q) occurs in the zygote or in the first few postzygotic mitotic divisions. 33 refs., 1 fig., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 96088
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 49; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
HUMAN CHROMOSOME 21
ORIGIN
POLYMERASE CHAIN REACTION
RFLPS