Citations for
1DEL21QD, DEL21QT
Genomic analysis of partial 21q monosomies with variable phenotypes.
Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J.
Eur J Hum Genet 19(2):235-8. Epub 2010 Sep 8.PMID: 20823914 2011
2DEL21QD, ITSN1
Detailed molecular and clinical characterization of three patients with 21q deletions.
Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E.
Clin Genet 77(2):145-54. Epub 2009 Oct 23. 2010
3DEL21QD, DEL21QT, DYRK1A
Microdeletion of the Down syndrome critical region at 21q22.
Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K.
Am J Med Genet A 152A(4):950-3.PMID: 20358607 2010
4DEL21QD, DYRK1A, KCNJ6
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.
Yamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K.
Am J Med Genet A m J Med Genet A. 2010 Dec 10. [Epub ahead of print]PMID: 21154855 2010
5DEL21QD, DEL21QT
A novel presentation of a rare chromosome 21q22.2 deletion.
Miller AC, Rashid RM, Muraskas JK.
Clin Dysmorphol 18(1):57-8. No abstract available. 2009
6DEL21, DEL21Q, DEL21QD, DEL21QT, TRI21
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE.
Eur J Hum Genet 17(4):454-66. Epub 2008 Nov 12. 2009
7DEL21QT, DEL21QD
Deletion of chromosome 21 disturbs human brain morphogenesis.
Yao G, Chen XN, Flores-Sarnat L, Barlow GM, Palka G, Moeschler JB, McGillivray B, Morse RP, Korenberg JR.
Genet Med 8(1):1-7. 2006
8DEL21QD
De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W, Liao YW.
Genet Couns 15(4):437-42. 2004
9DEL21QD, DEL21QT
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.
Ehling D, Kennerknecht I, Junge A, Prager B, Exeler R, Behre B, Horst J, Schmitt-John T, Bartsch O, Wirth J.
Am J Med Genet A 131A(3):265-72. 2004
10MOBKL1B, CCT8, RWDD2B, DEL21QD
Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5.
Orti R, Rachidi M, Vialard F, Toyama K, Lopes C, Taudien S, Rosenthal A,Yaspo ML, Sinet PM, Delabar JM.
Genomics 64(2):203-10. 2000
11DEL21QD, DEL21QT
Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2.
Matsumoto N, et al.
Am J Hum Genet 60 : 997-999. 1997
12APP, GRIK1, SOD1, DEL21QD, DEL21QT
High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1.
Orti R, Megarbane A, Maunoury C, Van Broeckhoven C, Sinet PM, Delabar JM.
Genomics 43(1):25-33. 1997
13DEL21QD
Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22.
Theodoropoulos DS, Cowan JM, Elias ER, Cole C.
Am J Med Genet 59(2):161-3. 1995
14DEL21QD, DEL21QT
Monosomy 21q: two cases of del(21q) and review of the literature.
Huret JL, Leonard C, Chery M, Philippe C, Schafei-Benaissa E, Lefaure G, Labrune B, Gilgenkrantz S.
Clin Genet 48(3):140-7. Review. 1995
15DEL21QD, DEL21QT
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.
Chettouh Z, Croquette MF, Delobel B, Gilgenkrants S, Leonard C, Maunoury C, Prieur M, Rethore MO, Sinet PM, Chery M, et al.
Am J Hum Genet 57(1):62-71. 1995
16DEL21QD, DEL21QT
No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in mirror duplications of chromosome 21.
Pangalos C, Theophile D, Sinet PM, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethore MO, Lejeune J, et al.
Am J Hum Genet 51(6):1240-50. 1992
17DEL21QD, DEL21QT, RG21
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.
McGinniss MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z, et al.
Am J Hum Genet 50(1):15-28. 1992
18DEL21QD, DEL21QT
Hypertonia arthrogryposis and mental retardation associated with a deletion of the centromere-D21S1 region on chromosome 21 : study of 5 patients.
Chettouh Z, et al.
(HGM11) Cytogenet Cell Genet 58 : 2035. 1991
19DEL21QD, DEL21QT
Deletion of chromosome 21 and normal intelligence : molecular definition of the lesion.
Korenberg JR, et al.
Hum Genet 87 : 112-118. 1991
20DEL21QD, DEL21QT
Partial monosomies of chromosome 21 and mental retardation: molecular definition of the region.
Korenberg JR, et al.
Am J Hum Genet 47 : A31. 1990
21HPE1, DEL21QD
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
Estabrooks LL, et al.
Am J Med Genet 36 : 306-309. 1990
22DEL21QD
[Monosomy for the centromeric regions of chromosome 21]
Rethore MO, Dutrillaux B, Baheux G, Gerveaux J, Lejeune J.
Exp Cell Res 70(2):455-6. French. No abstract available. 1972