Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
We compared the frequency of phenotypic features of 40 children with Down syndrome between individuals with a maternally or paternally derived extra chromosome 21, using quantitative FISH for comparing heteromorphisms of the nucleolar organizing region. Parental origin was determined in 90% of families. Hypotonia and craniofacial abnormalities were present in 90% or more individuals, irrespective of parental origin of chromosome 21. Congenital heart defects were more frequent in cases with a maternally derived extra chromosome 21. Imprinted gene(s) may contribute to the development of congenital heart defects in Down syndrome.
- Reeves RH, Baxter LL, Richtsmeier JT. Too much of a good thing: mechanisms of gene action in Down syndrome. Trends Genet 2001;17:83–88. CrossRef
- Korenberg JR, Bradley C, Distechet CM. Down Syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet 1992;50:294–302.
- Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, et al. Down syndrome phenotypes: The consequences of chromosomal imbalance. Proc Natl Acad Sci 1994;91:4997–5001. CrossRef
- Sinet PM, Théophile D. Rahmani Z, et al. Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level. Biomed Pharmacother 1994; 48: 247–252. CrossRef
- Henderson DJ, Sherman LS, Loughna SC, Bennett PR, Moore GE. Early embryonic failure associated with uniparental disomy for human chromosome 21. Hum Mol Genet 1994; 8: 1373–1376. CrossRef
- Stoll C, Alembik Y, Dott B, Feingold J. No evidence for genomic imprinting in liveborn Down syndrome patients. Ann Génét 1995;38:13–18.
- Epstein CJ. Down syndrome (Trisomy 21) In: Scriver CR, Beaudet AL, Valle D, Sly WS (Eds), The Metabolic and Molecular bases of Inherited Disease. 8th Edn. New York: McGraw Hill; 2001. p. 1223–1256.
- Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ. Computational and experimental identification of novel human imprinted genes. Genome Res 2007;17:1723–1730. CrossRef
- Kohn G, Taysi K, Atkins TE, Mellman WJ. Mosaic mongolism. Clinical correlation. J Pediatr 1970;76:874–879. CrossRef
- Zittergruen MM, Murray JC, Lauer RM, Burns TL, Sheffield VC. Molecular analysis of non-dysjunction in Down syndrome patients with and without atrioventricular septal defects. Ciculation 1995;92:2803–2810.
- Maslen CL, Babcock D, Robinson SW, Bean LJH, Dooley KJ, Willour VL, et al. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in down syndrome. Am J Med Genet A 2006;140:2501–2505.
- Barlow GM, Xiao-Ning C, Shi ZY, Lyons GE, Kurnit DM, Celle L, et al. Down syndrome congenital heart disease: A narrowed region and a candidate gene. Genet Med 2001;3:91–101. CrossRef
- Petersen MB, Frantzen M, Antonarakis SE, Warren AC, Van Broeckhoven C, Chakravarti A, et al. Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome. Am J Hum Genet 1992;51:516–525.
- Antonarakis SE. Parental origin of the extra chromo-some in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group. N Engl J Med 1991;324:872–886. CrossRef
- Iourov IY, Soloviev IV, Vorsanova SG, Monakhov VV, Yurov YB. An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics. J Histochem Cytochem 2005;53:401–408. CrossRef
- Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome
Volume 47, Issue 5 , pp 429-432
- Cover Date
- Print ISSN
- Additional Links
- Congenital heart disease
- Down syndrome
- Fluorescent in-situ hybridization
- Genomic imprinting
- Trisomy 21
- Author Affiliations
- 1. Genetic Clinic, Department of Pediatrics, KEM Hospital, Parel, Mumbai, 400 012, India
- 3. 3rd floor, 301, Suman Apartments, 16-B, Naushir Bharucha Road, Tardeo, Mumbai, 400 007, India
- 2. Cytogenetics Division, Institute of Immunohematology, Indian Council of Medical Research, Mumbai, India