Case Reports
doi: 10.1002/ajmg.1320220217.
Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother
- PMID: 4050866
- DOI: 10.1002/ajmg.1320220217
Item in Clipboard
Case Reports
Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother
Am J Med Genet.
1985 Oct.
Abstract
A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11). The patient showed mosaicism for 46,XX cell line, apparently resulting from a break of the translocation chromosome and a subsequent loss of 14q. The mother has a balanced translocation t(14;15)(q11;p11). Inherited trisomy 14 has not been reported previously.
Similar articles
-
Trisomy 14 mosaicism: case report and review.Am J Med Genet. 1979;3(4):331-9. doi: 10.1002/ajmg.1320030404. Am J Med Genet. 1979. PMID: 474633
-
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.Ann Genet. 1989;32(3):177-9. Ann Genet. 1989. PMID: 2486064
-
Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16.Am J Med Genet. 1998 Dec 4;80(4):418-22. Am J Med Genet. 1998. PMID: 9856575
-
Natural history of mosaic trisomy 14 syndrome.Am J Med Genet. 1992 Sep 15;44(2):189-96. doi: 10.1002/ajmg.1320440214. Am J Med Genet. 1992. PMID: 1456290 Review.
-
Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.Ann Genet. 1990;33(3):173-5. Ann Genet. 1990. PMID: 2288463 Review.
Cited by
-
Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.Hum Genet. 1987 Nov;77(3):214-20. doi: 10.1007/BF00284472. Hum Genet. 1987. PMID: 3315958 Review.
-
Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.Am J Hum Genet. 1989 Aug;45(2):193-205. Am J Hum Genet. 1989. PMID: 2667350 Free PMC article. Review.
-
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.Hum Genet. 1986 Oct;74(2):185-7. doi: 10.1007/BF00282090. Hum Genet. 1986. PMID: 3464561
-
Complete trisomy 14 mosaicism: first live-born case in Korea.Korean J Pediatr. 2012 Oct;55(10):393-6. doi: 10.3345/kjp.2012.55.10.393. Epub 2012 Oct 29. Korean J Pediatr. 2012. PMID: 23133487 Free PMC article.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Research Materials