TRISOMY 14 MOSAICISM
Trisomy 14 detected on CVS
3 cases of trisomy 14 detected in CVS were reported by Hahneman & Vejerslev, 1997. Two cases were non-mosaic and one mosaic in CVS, but trisomy was not confirmed in the fetus in any of these three cases.
Trisomy 14 detected on amniocentesis
Hsu (1997) reported on 5 cases of trisomy 14 mosaicism detected in amniotic fluid. 2 were reportedly abnormal. 1 had multiple congenital anomalies and facial dysmorphism and the other had hydrocephaly.
Trisomy 14 detected postnatally
Uniparental Disomy (UPD 14)
UPD studies are important for cases of trisomy 14 mosaicism because there is known imprinting on chromosome 14. The finding of hydrocephaly in the case above is compatible with maternal UPD14 (Hsu, 1997). Segmental UPD has been reported for this chromosomes (Coveler etal 2002).
Link to What is UPD?
Link to Maternal UPD 14 - Known imprinting effect
Link to Paternal UPD 14 - Known imprinting effect
- HUGO Chromosome 14 - Chromosome 14 specific sites
Human Chromosome 14 - Provides links to gene maps, sequences, associated genetic disorders, nonhuman genetic models, identified genes, research efforts and laboratories, and other information as available. Links are very scientific.
Coveler KJ, Yang SP, Sutton R et al. (2002) A case of segmental paternal isodisomy of chromosome 14. Hum Genet. Mar;110(3):251-6. Review. PubMed
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
Ralph A, Scott F, Tiernan C, Caubere M, Kollegger S, Junio J, Roberts C, Ewen K, Slater HR. (1999) Maternal uniparental isodisomy for chromosome 14 detected prenatally. Prenatal Diagnosis 19(7):681-684. PubMed
Sepulveda W, Monckeberg MJ, Be C. (1998) Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings. Prenatal Diagnosis 18(5):481-484. PubMed