Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Journal of Medical Genetics

Volumn 44, Issue 7, 2007, Pages 448-451

  Ronan, Anne ^a,e   Fagan, Kerry ^b   Christie, Louise ^a   Conroy, Jeffrey ^c   Nowak, Norma J ^c,d   Turner, Gillian ^a  

^a Hunter Health   (Australia)

^b JOHN HUNTER HOSPITAL   (Australia)

^c ROSWELL PARK CANCER INSTITUTE   (United States)

^d UNIVERSITY AT BUFFALO   (United States)

^e NONE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC LYMPHANGIOMA; DOWN SYNDROME; DYRK1 GENE; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GESTATIONAL AGE; HUMAN; HYDROPS; PRIORITY JOURNAL; SCHOOL CHILD;

CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; FETUS; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES;

EID: 34447343104     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.047373     Document Type: Article

References (30)

1. Arron JR, Winslow MM, Polleri A, Chang C-P, Wu H, Gao X, Neilson JR, Chen L, Heit JJ, Kim SK, Yamasaki N, Miyakawa T, Francke U, Graef IA, Crabtree GR. NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature 2006;441:595-600.
2. Delabar J, Theophile D, Rahmani Z, Blouin J, Prieur M, Noel B, Sinet P. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1993;1:114-24.
3. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-8.
4. Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. Fine-scale structural variation of the human genome. Nat Genet 2005;37:727- 32.
5. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-51.
6. Cervenka J, Gorlin R, Reza Djavadi G. Down syndrome due to partial trisomy 21q. Clin Genet 1977;11:119-21.
7. Aula P, Leisti J, von Koskull H. Partial trisomy 21. Clin Genet, 1973;4, 241-51.
8. Matsumoto N, Mikawa M. Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21)(p11). Am J Med Genet 1995;59:521-2.
9. Korenberg J, Kawashima H, Pulst S, Ikeuchi T, Ogasawara N, Yamamoto K, Schonberg A, West R, Allen L, Magenis E, Ikawa K, Taniguchi N, Epstein C. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 1990;47:236-46.
10. Hadebank M, Rodewald A. Moderate Down's syndrome in three siblings having partial trisomy 21q22.2-ter and therefore no SOD-1 excess. Hum Genet 1982;60:74-7.
11. Pfeiffer R, Kessel E, Soer K. Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet 1977;11:207-13.
12. Pueschel S, Padre-Mendoza T, Ellenbogen R. Partial trisomy 21. Clin Genet 1980;18:392-5.
13. Barnicoat A, Bonneau J, Boyd E, Docherty Z, Fennell S, Huret J, King M, Maltby E, McManus S, Pilz D, Shafei-Benaissa E, Super M, Tolmie J. Down syndrome with partial duplication and del(21) syndrome: study protocol and call for collaboration. Study 1: clinical assessment, Clin Genet 1996;49:20-7.
14. Jenkins E, Duncan C, Wright C, Giordano F, Wilbur L, Wisniewski K, Sklower S, French J, Jones C, Brown W. Atypical Down syndrome and partial trisomy 21. Clin Genet 1983;24:97-102.
15. Williams C, Frias J, Mc Cormick M, Antonarakis S, Cantu E. Clinical, cytogenetic and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype. Am J Med Genet 1990;7:110-4.
16. Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N. Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome. Am J Med Genet 2006;140A:227-32.
17. Rahmani Z, Blouin J, Creau-Goldberg N, Watkins P, Mattei J, Poisonnier M, Prieur M, Chettouh Z, Nicole A, Aurias A, Sinet P, Delabar J. Down syndrome critical region around D21S55 on proximal 21q22.3. Am J Med Genet 1990;7:98-103.
18. McCormick M, Schinzel A, Petersen M, Stetten G, Driscoll D, Cantu E, Tranebjaerg L, Mikkelsen M, Watkins P, Antonarakis S. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics 1989;5:325-31.
19. Korenberg J, Chen X, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, Graham J, Hugdins L, McGillivray B, Miyazaki K, Ogasawara N, Park J, Pagon R, Pueschel S, Sack G, Say B, Schuffenhauer S, Soukup S, Yamanaka T. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994;91:4997-5001.
20. Leonard C, Gautier M, Sinet P, Selva J, Huret J. Two Down syndrome patients with rec(21), dupq, inv(21)(p11;q2109) from a familial pericentric inversion. Ann Genet 1986;29:181-3.
21. Petersen M, Tranebjaerg L, Mc Cormick M, Michelsen N, Mikkelsen M, Antonarakis S. Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q. Am J Med Genet 1990;7:104-9.
22. Hagemeijer A, Smit E. Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype. Hum Genet 1977;38:15-23.
23. Kosaki R, Kosaki K, Matsushima K, Mitsui N, Matsumoto N, Ohashi H. Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication. Congenital Anomalies 2005;45:62-4.
24. Delabar J, Sinet P, Chadefaux B, Nicole A, Gegonne A, Stehelin D, Fridlansky F, Creau-goldberg N, Turleau C, de Grouchy J. Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome). Hum Genet 1987;76:225-9.
25. Huret J, Delabar J, Marlhens F, Aurias A, Nicole A, Berthier M, Tanzer J, Sinet P. Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality. Hum Genet 1987;75:251-7.
26. Fuentes JJ, Genesca L, Kingsbury TJ, Cunningham KW, Perez-Riba M, Estivill X, de la Luna S. DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signalling pathways. Hum Mol Genet 2000;9:1681-90.
27. Paoloni-Giacobino A, Extermann D, Extermann P, Daghoun S. Pregnancy outcome of 30 fetuses with cystic hygroma diagnosed during the first 15 weeks of gestation. Genet Couns 2003;14:413-18.
28. Trauffer P, Anderson C, Johnson A, Heeger S, Morgan P, Wapner R. The natural history of euploid pregnancies with first-trimester cystic hygromas. Am J Obstet Gynaecol 1997;170:1279-84.
29. Senat M, DeKeersmaecker B, Audibert F, Montcharmont G, Frydman R, Ville Y. Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn 2002;22:345-9.
30. Hyett J. Increased nuchal translucence in fetuses with a normal karyotype. Prenat Diagn 2002;22:864-8.