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