Review
doi: 10.1111/j.1399-0004.1987.tb03299.x.
Free proximal trisomy 21 without the Down syndrome
Affiliations
- PMID: 2446809
- DOI: 10.1111/j.1399-0004.1987.tb03299.x
Item in Clipboard
Review
Free proximal trisomy 21 without the Down syndrome
Clin Genet.
1987 Nov.
Abstract
Analysis of partial duplication of chromosome 21 suggests that band 21q22 contains determinants for the Down syndrome. We report two cases of free proximal trisomy 21 without manifestations of the Down syndrome. Phenotypic anomalies included marked microcephaly, short stature, hypoplastic nails, and mental retardation/developmental delay. Our cases are consistent with the assignment of band 21q22 as the causal duplicated segment in the Down syndrome.
Similar articles
-
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.Hum Genet. 1996 Oct;98(4):460-6. doi: 10.1007/s004390050240. Hum Genet. 1996. PMID: 8792823
-
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.Eur J Pediatr. 2008 Jun;167(6):655-9. doi: 10.1007/s00431-007-0568-y. Epub 2007 Aug 1. Eur J Pediatr. 2008. PMID: 17668239
-
A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).Genet Couns. 2011;22(4):417-23. Genet Couns. 2011. PMID: 22303803
-
Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.Am J Med Genet. 1990 Aug;36(4):506-10. doi: 10.1002/ajmg.1320360427. Am J Med Genet. 1990. PMID: 1697142 Review.
-
Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.Clin Genet. 1994 Dec;46(6):423-9. doi: 10.1111/j.1399-0004.1994.tb04410.x. Clin Genet. 1994. PMID: 7889659 Review.
Cited by
-
Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.Proc Natl Acad Sci U S A. 1989 Aug;86(15):5958-62. doi: 10.1073/pnas.86.15.5958. Proc Natl Acad Sci U S A. 1989. PMID: 2527368 Free PMC article.
-
Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.Am J Hum Genet. 1993 Dec;53(6):1269-78. Am J Hum Genet. 1993. PMID: 8250043 Free PMC article. Review.
-
Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.Am J Hum Genet. 1992 Feb;50(2):294-302. Am J Hum Genet. 1992. PMID: 1531166 Free PMC article.
-
Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.Front Genet. 2021 Dec 21;12:731815. doi: 10.3389/fgene.2021.731815. eCollection 2021. Front Genet. 2021. PMID: 34992628 Free PMC article.
-
Down syndrome phenotypes: the consequences of chromosomal imbalance.Proc Natl Acad Sci U S A. 1994 May 24;91(11):4997-5001. doi: 10.1073/pnas.91.11.4997. Proc Natl Acad Sci U S A. 1994. PMID: 8197171 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
