TRISOMY 11 MOSAICISM
Trisomy 11 detected on CVS
One case of confined placental mosaicism for trisomy 11 were reported in a large study of chromosomal mosaicism detected on CVS. Trisomy 11 cells were not confirmed in the fetus (Hahneman & Vejerslev, 1997).
Trisomy 11 detected on amniocentesis
Hsu (1997) reported on 2 cases of trisomy 11 mosaicism detected on amniocentesis. Both resulted in a normal outcome.
Trisomy 11 detected prenatally
Uniparental Disomy (UPD 11)
We report a case of paternal uniparental disomy for chromosome 11 that presented as severe intrauterine growth retardation (Webb et al, 1995)
Link to What is UPD?
Link to Maternal UPD 11 page
Link to Paternal UPD 11 page
Hahnemann JM, Vejerslev LO. ( 1997) European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. American Journal of Medical Genetics 70(2):179-87. PubMed
Hsu LY, Yu MT, Neu RL, Van Dyke DL, Benn PA, Bradshaw CL, Shaffer LG, Higgins RR, Khodr GS, Morton CC, Wang H, Brothman AR, Chadwick D, Disteche CM, Jenkins LS, Kalousek DK, Pantzar TJ, Wyatt P. (1997) Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenatal Diagnosis 17(3):201-242. PubMed
Ledbetter DH, Engel E. (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Human Molecular Genetics 4:1757-1764 PubMed
Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J. (1995) A case of paternal uniparental disomy for chromosome 11. Prenatal Diagnosis Aug;15(8):773-777. PubMed