Case Reports
A family with three sibs carrying trisomy 21
- PMID: 127545
Item in Clipboard
Case Reports
A family with three sibs carrying trisomy 21
Ann Genet.
1975 Jun.
Abstract
A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.
Similar articles
-
[Down's syndrome with confirmation of trisomy G solely in fibroblast cultures].J Genet Hum. 1973 Sep;21(3):215-22. J Genet Hum. 1973. PMID: 4282491 French. No abstract available.
-
Twins, probably monozygotic, displaying Down's syndrome, physical and functional mirror-imaging, and discordance for congenital heart disease.Am J Ment Defic. 1972 Jan;76(4):391-6. Am J Ment Defic. 1972. PMID: 4258447 No abstract available.
-
[Down's syndrome with predominantly normal karyotype in lymphocyte culture but extensive G trisomy in fibroblast culture].Arztl Forsch. 1972 Sep 10;26(9):309-16. Arztl Forsch. 1972. PMID: 4262890 German. No abstract available.
-
Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature.Ann Genet. 2004 Jan-Mar;47(1):95-8. doi: 10.1016/j.anngen.2003.08.025. Ann Genet. 2004. PMID: 15050879 Review.
-
Down's syndrome. Current stage of cytogenetic research.Humangenetik. 1971;12(1):1-28. doi: 10.1007/BF00291028. Humangenetik. 1971. PMID: 4254045 Review. No abstract available.
Cited by
-
Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue.Mol Cytogenet. 2010 Mar 18;3:7. doi: 10.1186/1755-8166-3-7. Mol Cytogenet. 2010. PMID: 20298592 Free PMC article.
-
Parental trisomy 21 mosaicism.Am J Hum Genet. 1982 Jan;34(1):125-33. Am J Hum Genet. 1982. PMID: 6211090 Free PMC article.
-
Trisomy 21 mosaicism in two successive generations in a family.J Med Genet. 1980 Feb;17(1):48-9. doi: 10.1136/jmg.17.1.48. J Med Genet. 1980. PMID: 6445007 Free PMC article.
-
Reproduction in a woman with low percentage t(21q21q) mosaicism.J Med Genet. 1977 Jun;14(3):221-3. doi: 10.1136/jmg.14.3.221. J Med Genet. 1977. PMID: 142158 Free PMC article.