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Items: 1 to 20 of 86

1.

A nine-month-old boy with isodicentric chromosome 15: a case report.

Park DH, Lim S, Park ES, Sim EG.

Ann Rehabil Med. 2013 Apr;37(2):291-4. doi: 10.5535/arm.2013.37.2.291. Epub 2013 Apr 30.

2.

Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review.

Grass FS, Parke JC Jr, Kirkman HN, Christensen V, Roddey OF, Wade RV, Knutson C, Spence JE.

Am J Med Genet. 1993 Nov 1;47(6):812-6. Review.

PMID:
7506483
3.

A case of isodicentric chromosome 15 presented with epilepsy and developmental delay.

Kim JS, Park J, Min BJ, Oh SK, Choi JS, Woo MJ, Chae JH, Kim KJ, Hwang YS, Lim BC.

Korean J Pediatr. 2012 Dec;55(12):487-90. doi: 10.3345/kjp.2012.55.12.487. Epub 2012 Dec 20.

4.

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ.

Mol Cytogenet. 2018 Feb 5;11:15. doi: 10.1186/s13039-018-0365-5. eCollection 2018.

5.

Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]).

Bryke CR, Lindgren V, Fryburg JS, Yang-Feng TL.

Am J Med Genet. 1990 Jun;36(2):247-50.

PMID:
2368814
6.

The behavioral phenotype of the idic(15) syndrome.

Battaglia A, Parrini B, Tancredi R.

Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):448-55. doi: 10.1002/ajmg.c.30281.

PMID:
20981774
7.

Three probands with autistic disorder and isodicentric chromosome 15.

Wolpert CM, Menold MM, Bass MP, Qumsiyeh MB, Donnelly SL, Ravan SA, Vance JM, Gilbert JR, Abramson RK, Wright HH, Cuccaro ML, Pericak-Vance MA.

Am J Med Genet. 2000 Jun 12;96(3):365-72. Review.

PMID:
10898916
8.

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC.

Mol Cytogenet. 2009 Dec 18;2:27. doi: 10.1186/1755-8166-2-27.

9.

Intrachromosomal triplication for the distal part of chromosome 15q.

Schluth C, Mattei MG, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Ginglinger E, Jeandidier E.

Am J Med Genet A. 2005 Jul 15;136(2):179-84. Review.

PMID:
15940678
10.

Tetrasomy Y by structural rearrangement: clinical report.

DesGroseilliers M, Lemyre E, Dallaire L, Lemieux N.

Am J Med Genet. 2002 Sep 1;111(4):401-4.

PMID:
12210299
11.

Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia.

Iourov IY, Vorsanova SG, Liehr T, Monakhov VV, Soloviev IV, Yurov YB.

Cytogenet Genome Res. 2008;121(3-4):302-6. doi: 10.1159/000138903. Epub 2008 Aug 29.

PMID:
18758177
12.

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.

Battaglia A.

Brain Dev. 2005 Aug;27(5):365-9. Epub 2005 Apr 22. Review.

PMID:
16023554
13.

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

Ensenauer R, Jalal S, Meyer R, Babovic-Vuksanovic D.

Am J Med Genet A. 2004 Feb 15;125A(1):86-91.

PMID:
14755472
14.

Duplication of isodicentric chromosome 21, idic(21)(p11.2), leading to pentasomy 21q in acute myeloid leukemia with multilineage dysplasia.

Shimoyama M, Yamamoto K, Nishikawa S, Minagawa K, Katayama Y, Matsui T.

Cancer Genet Cytogenet. 2009 Oct;194(1):38-43. doi: 10.1016/j.cancergencyto.2009.04.019.

PMID:
19737652
15.

4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.

Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F.

J Craniomaxillofac Surg. 2000 Jun;28(3):165-70. Review.

PMID:
10964553
16.

Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe.

Meguid NA, Habibian R.

Clin Genet. 1992 May;41(5):225-8.

PMID:
1606710
17.

Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT Jr, Hennessy MD, Kahler SG.

Am J Med Genet. 1992 Sep 1;44(1):24-30.

PMID:
1519645
18.

Tetrasomy 8 as a primary chromosomal abnormality in a child with acute megakaryoblastic leukemia. a case report and review of the literature.

Aktas D, Tuncbilek E, Cetin M, Hicsonmez G.

Cancer Genet Cytogenet. 2001 Apr 15;126(2):166-8. Review.

PMID:
11376811
19.

[Anesthetic management of a patient with 15q tetrasomy for dental treatment].

Hase Y, Kemekura N, Nitta Y, Fujisawa T.

Rev Bras Anestesiol. 2017 May 23. pii: S0034-7094(17)30273-8. doi: 10.1016/j.bjan.2017.04.022. [Epub ahead of print] Portuguese.

20.

Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)].

Sijmons RH, Leegte B, van Lingen RA, de Pater JM, van der Veen AY, del Canho H, Bos C, ten Kate LP, Breed AS.

Am J Med Genet. 1993 Sep 15;47(4):559-62.

PMID:
7504882

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