451 related articles for article (PubMed ID: 24334122)
1. A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
Papoulidis I; Papageorgiou E; Siomou E; Oikonomidou E; Thomaidis L; Vetro A; Zuffardi O; Liehr T; Manolakos E; Vassilis P
Gene; 2014 Feb; 536(2):441-3. PubMed ID: 24334122
[TBL] [Abstract][Full Text] [Related]
2. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
El-Ruby M; Hemly NA; Zaki MS
Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
[TBL] [Abstract][Full Text] [Related]
3. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.
Ronan A; Fagan K; Christie L; Conroy J; Nowak NJ; Turner G
J Med Genet; 2007 Jul; 44(7):448-51. PubMed ID: 17237124
[TBL] [Abstract][Full Text] [Related]
4. 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; 2009 Apr; 17(4):454-66. PubMed ID: 19002211
[TBL] [Abstract][Full Text] [Related]
5. Inv21p12q22del21q22 and intellectual disability.
Oliveira R; Dória S; Madureira C; Lima V; Almeida C; Pinho MJ; Ramalho C; Matoso E; Barros A; Carreira IM; Moura CP
Gene; 2013 Mar; 517(1):120-4. PubMed ID: 23266646
[TBL] [Abstract][Full Text] [Related]
6. Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.
Capkova P; Misovicova N; Vrbicka D
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2014 Jun; 158(2):321-5. PubMed ID: 24145769
[TBL] [Abstract][Full Text] [Related]
7. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
Pelleri MC; Locatelli C; Mattina T; Bonaglia MC; Piazza F; Magini P; Antonaros F; Ramacieri G; Vione B; Vitale L; Seri M; Strippoli P; Cocchi G; Piovesan A; Caracausi M
BMC Med Genomics; 2022 Dec; 15(1):266. PubMed ID: 36544206
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
Chen CP; Chern SR; Wang W; Lee CC; Chen WL; Chen LF; Chang TY; Tzen CY
Prenat Diagn; 2001 May; 21(5):346-50. PubMed ID: 11360273
[TBL] [Abstract][Full Text] [Related]
9. A patient with Down syndrome with a de novo derivative chromosome 21.
Cetin Z; Yakut S; Mihci E; Manguoglu AE; Berker S; Keser I; Luleci G
Gene; 2012 Oct; 507(2):159-64. PubMed ID: 22827956
[TBL] [Abstract][Full Text] [Related]
10. Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.
Pelleri MC; Cicchini E; Petersen MB; Tranebjaerg L; Mattina T; Magini P; Antonaros F; Caracausi M; Vitale L; Locatelli C; Seri M; Strippoli P; Piovesan A; Cocchi G
Mol Genet Genomic Med; 2019 Aug; 7(8):e797. PubMed ID: 31237416
[TBL] [Abstract][Full Text] [Related]
11. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.
Nadal M; Milà M; Pritchard M; Mur A; Pujals J; Blouin JL; Antonarakis SE; Ballesta F; Estivill X
Hum Genet; 1996 Oct; 98(4):460-6. PubMed ID: 8792823
[TBL] [Abstract][Full Text] [Related]
12. Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.
Pelleri MC; Cicchini E; Locatelli C; Vitale L; Caracausi M; Piovesan A; Rocca A; Poletti G; Seri M; Strippoli P; Cocchi G
Hum Mol Genet; 2016 Jun; 25(12):2525-2538. PubMed ID: 27106104
[TBL] [Abstract][Full Text] [Related]
13. Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
Ruiz-Botero F; Pachajoa H
J Med Case Rep; 2016 Jul; 10():204. PubMed ID: 27459995
[TBL] [Abstract][Full Text] [Related]
14. Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.
Kondo Y; Mizuno S; Ohara K; Nakamura T; Yamada K; Yamamori S; Hayakawa C; Ishii T; Yamada Y; Wakamatsu N
Am J Med Genet A; 2006 Feb; 140(3):227-32. PubMed ID: 16411203
[TBL] [Abstract][Full Text] [Related]
15. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
Chen CP; Chern SR; Lin CC; Wang TH; Li YC; Hsieh LJ; Lee CC; Hua HM; Wang W
Prenat Diagn; 2006 Apr; 26(4):313-20. PubMed ID: 16506269
[TBL] [Abstract][Full Text] [Related]
16. [A case with partial trisomy 7 (q34→qter) derived from a paternal reciprocal translocation t(7;14)(q34;q32)].
Xiao B; Ji X; Jiang WT; Zhang JM; Hu Q; Tao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):654-7. PubMed ID: 22161098
[TBL] [Abstract][Full Text] [Related]
17. Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation.
Scott JA; Wenger SL; Steele MW; Chakravarti A
Am J Med Genet; 1995 Mar; 56(1):67-71. PubMed ID: 7747789
[TBL] [Abstract][Full Text] [Related]
18. Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.
Shojaei A; Behjati F; Derakhshandeh-Peykar P; Razzaghy-Azar M; Otukesh H; Kariminejad R; Dowlati MA; Rashidi-Nezhad A; Tavakkoly-Bazzaz J
Gene; 2013 Mar; 517(1):137-45. PubMed ID: 23201896
[TBL] [Abstract][Full Text] [Related]
19. A
Weisfeld-Adams JD; Tkachuk AK; Maclean KN; Meeks NL; Scott SA
NPJ Genom Med; 2016; 1():16003-. PubMed ID: 27840696
[TBL] [Abstract][Full Text] [Related]
20. A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings.
Chen CP; Huang HK; Ling PY; Su YN; Chen M; Tsai FJ; Wu PC; Chern SR; Chen YT; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2011 Dec; 50(4):492-8. PubMed ID: 22212323
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]