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Results: 1 to 20 of 96

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.

PMID:
23705128
[PubMed]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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.

PMID:
23300505
[PubMed]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
20021661
[PubMed]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Kwasnicka-Crawford DA, Roberts W, Scherer SW.

J Autism Dev Disord. 2007 Apr;37(4):694-702.

PMID:
17006779
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
14.

Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder.

Ouldim K, Natiq A, Jonveaux P, Sefiani A.

J Biomed Biotechnol. 2007;2007(3):61538. Epub 2007 Mar 20.

PMID:
17541469
[PubMed]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.

Di Rocco A, Loggini A, Di Rocco M, Di Rocco P, Rossi RP, Gimelli G, Bazil C.

BMC Neurol. 2013 May 10;13:43. doi: 10.1186/1471-2377-13-43.

PMID:
23663378
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.

Xu H, Xiao B, Ji X, Hu Q, Chen Y, Qiu W.

Eur J Med Genet. 2014 Jul;57(7):329-33. doi: 10.1016/j.ejmg.2014.04.011. Epub 2014 Apr 30.

PMID:
24793337
[PubMed - in process]
20.

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
[PubMed - indexed for MEDLINE]
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