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Items: 1 to 20 of 100

1.

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. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8.

2.

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G.

Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24.

PMID:
22548977
3.

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. 2004 Dec 15;131(3):265-72.

PMID:
15534873
4.

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].

Obersztyn E, Klapecki J, Helias-Rodzewicz Z, Bocian E, Mazurczak T.

Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):199-209. Polish.

PMID:
17028389
5.

Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.

Hannachi H, Mougou-Zerelli S, BenAbdallah I, Mama N, Hamdi I, Labalme A, Elghezal H, Sanlaville D, Saad A.

Cytogenet Genome Res. 2011;135(2):102-10. doi: 10.1159/000330880. Epub 2011 Aug 26.

PMID:
21876345
6.

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 27;10:204. doi: 10.1186/s13256-016-0988-2.

7.

A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.

Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.

Am J Med Genet A. 2014 Apr;164A(4):1021-8. doi: 10.1002/ajmg.a.36377. Epub 2014 Jan 23.

PMID:
24458657
8.

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. 2010 Feb;77(2):145-54. doi: 10.1111/j.1399-0004.2009.01289.x. Epub 2009 Oct 23.

PMID:
19863549
9.

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É.

Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 Mar 9.

PMID:
22407767
10.

No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

Pangalos C, Théophile D, Sinet PM, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethoré MO, Lejeune J, et al.

Am J Hum Genet. 1992 Dec;51(6):1240-50.

11.

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp AS, Engelen JJ, Albrechts JC, de Die-Smulders CE, Hamers AJ.

J Med Genet. 1998 Jul;35(7):604-8. Review.

12.

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

Naoufal R, Legendre M, Couet D, Gilbert-Dussardier B, Kitzis A, Bilan F, Harbuz R.

Eur J Med Genet. 2016 Sep;59(9):483-7. doi: 10.1016/j.ejmg.2016.07.001. Epub 2016 Jul 21.

PMID:
27452446
13.

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.

Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti GV.

Am J Med Genet A. 2008 Sep 1;146A(17):2234-41. doi: 10.1002/ajmg.a.32397.

PMID:
18666229
14.

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. doi: 10.1038/ejhg.2008.214. Epub 2008 Nov 12.

15.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.

J Med Genet. 2007 Sep;44(9):556-61. Epub 2007 Jun 1.

16.

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.

la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.

Am J Med Genet A. 2013 Jun;161A(6):1447-52. doi: 10.1002/ajmg.a.35901. Epub 2013 Apr 30.

PMID:
23633410
17.

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. Review.

PMID:
16506269
18.

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

Zheng Z, Yao RE, Geng J, Jin X, Shen Y, Ying D, Fu Q, Yu Y.

Gene. 2013 Mar 10;516(2):301-6. doi: 10.1016/j.gene.2012.12.090. Epub 2013 Jan 4.

PMID:
23296059
19.

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.

Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.

PMID:
23239541
20.

12q24.33 deletion: report of a patient with intellectual disability and review of the literature.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A.

Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Review.

PMID:
23613162

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