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Items: 1 to 20 of 143

1.

Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature.

Castiglione A, Guaran V, Astolfi L, Orioli E, Zeri G, Gemmati D, Bovo R, Montaldi A, Alghisi A, Martini A.

Cytogenet Genome Res. 2013;141(4):243-59. doi: 10.1159/000353846. Epub 2013 Aug 7. Review.

2.

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.

Laus AC, Baratela WA, Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli L.

Am J Med Genet A. 2012 Apr;158A(4):821-7. doi: 10.1002/ajmg.a.32988. Epub 2012 Feb 21. Review.

PMID:
22354628
3.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

4.

Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother.

Petković I, Barisić I, Bastić M, Hećimović S, Bago R.

Am J Med Genet A. 2003 Jul 15;120A(2):266-71.

PMID:
12833412
5.

Case report: Y;6 translocation with deletion of 6p.

Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A.

Clin Dysmorphol. 2005 Apr;14(2):93-6.

PMID:
15770132
6.

Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings.

Cakmak-Genc G, Karakas-Celik S, Dursun A, Piskin İE.

Gene. 2015 Sep 1;568(2):211-4. doi: 10.1016/j.gene.2015.05.022. Epub 2015 May 13.

PMID:
25979671
7.

Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.

Delatycki MB, Voullaire L, Francis D, Petrovic V, Robertson A, Webber LM, Slater HR.

J Med Genet. 1999 Apr;36(4):335-8.

8.

Partial trisomy of the distal part of 10q: a report of two Egyptian cases.

Aglan MS, Kamel AK, Helmy NA.

Genet Couns. 2008;19(2):199-209.

PMID:
18618995
9.

A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC.

Genet Couns. 2010;21(1):99-108.

PMID:
20420036
10.

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP.

Am J Med Genet. 2002 Dec 15;113(4):339-45. Review.

PMID:
12457405
11.

Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth.

Balci S, Yuksel Konuk B, Atik F, Oguz AK, Ergun MA, Baltaci V, Kosyakova N, Liehr T.

Genet Couns. 2010;21(3):317-24.

PMID:
20964123
12.

[Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: clinical features and genetic abnormalities].

Xiao B, Zhang JM, Ji X, Jiang WT, Hu J, Tao J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Jun;28(3):247-50. doi: 10.3760/cma.j.issn.1003-9406.2011.03.002. Chinese.

PMID:
21644216
13.

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.

Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L.

Am J Med Genet. 1991 Nov 1;41(2):246-50.

PMID:
1785643
14.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
15.

Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.

Battaglia A, Novelli A, Ceccarini C, Carey JC.

Am J Med Genet A. 2006 Jan 15;140(2):144-50.

PMID:
16353244
16.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Qi Z, Jeng LJ, Slavotinek A, Yu J.

BMC Med Genomics. 2015 Jul 15;8:38. doi: 10.1186/s12920-015-0113-1.

17.

Phenotypic and cytogenetic spectrum of 9p trisomy.

Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM.

Genet Couns. 2007;18(1):29-48.

PMID:
17515299
18.

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.

Erdel M, Duba HC, Verdorfer I, Lingenhel A, Geiger R, Gutenberger KH, Ludescher E, Utermann B, Utermann G.

Hum Genet. 1997 May;99(5):596-601.

PMID:
9150724
19.

Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.

Yeşilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z.

Genet Couns. 2011;22(1):35-40.

PMID:
21614986
20.

Trisomy 18 in a patient with CHARGE association.

Lee WT, Hou JW, Yau KI, Wang TR.

J Formos Med Assoc. 1995 Jan-Feb;94(1-2):60-2.

PMID:
7613237

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