Advanced parental age in maternal uniparental disomy (UPD): Implications for the mechanism of formation

European Journal of Human Genetics

Volumn 12, Issue 5, 2004, Pages 343-346

  Kotzot, Dieter ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

Heterodisomy; Isodisomy; Parental age; Uniparental disomy

Indexed keywords

ADULT; ARTICLE; AUSTRIA; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CONTROLLED STUDY; FEMALE; GAMETE; GENETIC COMPLEMENTATION; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; MEIOSIS; NONDISJUNCTION; PARENTAL AGE; PATERNAL AGE; PRIORITY JOURNAL; STATISTICAL ANALYSIS; TRISOMY; UNIPARENTAL DISOMY; ZYGOTE;

ADULT; CHROMOSOME ABERRATIONS; FEMALE; HUMANS; MALE; MATERNAL AGE; MEIOSIS; PATERNAL AGE; UNIPARENTAL DISOMY;

EID: 2442706570     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201158     Document Type: Article

References (12)

1. Kotzot D: Abnormal phenotypes in uniparental disomy (UPD) - fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999; 82: 265-274.
2. Robinson WP: Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 2000; 22: 452-459.
3. Hassold TJ, Jacobs PA: Trisomy in man. Annu Rev Genet 1984; 18: 69-97.
4. Hassold T, Hunt P: To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2001; 2: 280-291.
5. Antonarakis SE: 10 years of Genomics, chromosome 21, and Down syndrome. Genomics 1998; 51: 1-16.
6. Robinson WP, Lorda-Sanchez I, Malcolm S et al: Increased parental ages and uniparental disomy 15: a paternal age effect? Eur J Hum Genet 1993; 1: 280-286.
7. Robinson WP, Langlois S, Schuffenhauer S et al: Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenatal Diagn 1996; 16: 837-844.
8. Ginsburg C, Fokstuen S, Schinzel A: Contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. Am J Med Genet 2000; 95: 454-460.
9. Penrose L: The relative effects of paternal and maternal age in mongolism. J Genet 1933; 27: 219-224.
10. Gardner RJM, Sutherland GR: Chromosome Abnormalities and Genetic Counselling. Oxford: Oxford University Press; 1996.
11. Kotzot D: Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. Am J Med Genet 2002; 111: 366-375.
12. Martin RH, Ko E, Rademaker A: Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes. Am J Med Genet 1991; 39: 321-331.