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TRISOMY 10 MOSAICISM
Complete trisomy 10 is a rare and lethal condition (Knoblauch et. al., 1999). Trisomy 10 is detected in approximately 1.8% of miscarriages and there is an association between trisomy 10 and advanced maternal age. There are at least five cases of trisomy 10 mosaicism in liveborn children that have been reported in the literature. In all cases the outcome was abnormal.
Trisomy 10 detected on CVS
Six cases of confined placental mosaicism for trisomy 10 were reported in a large study of chromosomal mosaicism detected on CVS. The findings were not confirmed in any of the fetuses (Hahnemann and Vejerslev, 1997).
Trisomy 10 detected on amniocentesis
Trisomy 10 conceptions were not observed in a large case report of chromosomal mosaicism detected on amniocentesis (Hsu et. al., 1997)
Knoblauch et al (1999) summarized past case reports and suggested that the common clinical features of trisomy 10 mosaisicm include; growth retardation, feeding problems, failure to thrive, distinct facial features, high arched palate, a long slender trunk, cardiac defects, renal, skeletal and central nervous system abnormalities, and early death.
Uniparental Disomy (UPD 10)
Jones et al (1995) reported one case of maternal UPD of chromosome 10, with no apparent imprinting effect (Ledbetter & Engel, 1995).
Schlegel et al. (2002) reproted a case of maternal isodisomy combined with partial trisomy 10 (p12.31-q11.1). The partial trisomy was due to an additional 'marker' chromosome first identified on CVS, but also present in the fetus. The pregnancy was terminated and autopsy of the fetus revealed hypoplasia of heart, liver, kidneys and suprarenal glands. These abnormal findings are most likely attributable to the partial trisomy present.
Link to What is UPD?
Link to Maternal UPD 10 page
Link to Paternal UPD 10 page
Internet Links
- Chromosome 10q - Bringing families of children with Trisomy 10q together.
- HUGO Chromosome 10 - Chromosome 10 specific sites
- Human Chromosome 10 - 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.
References
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):201-42 PubMed
Jones C, Booth C, Rita D, Jazimes L, Spiro R, McCulloch B, McCaskill C, Shaffer L. (1995) Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism. Prenatal Diagnosis 15:843-848 PubMed
Knoblauch H, Sommer D, Zimmer C, Tennstedt C, Heling K, Bollmann R, Bommer C, Tinschert S, Korner H. (1999) Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy. Prenatal Diagnosis. 19(4):379-82 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
Schlegel et al. (2002) Maternal uniparental disomy 10 and mosaicism for an additonal marker chromosome derived from the paternal chromosome 10 in a fetus. Prenatal Diagnosis. 22:418-421PubMed |