PubMed

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.

Haj R, Jackson K, Torchia BA, Shaffer LG, Bejjani BA, Gowans GC, Ruff MW.

Mol Cytogenet. 2009 Jan 7;2:2.PMID: 19128483 [PubMed - in process]Free PMC ArticleFree textRelated citations

Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.

Chen CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W.

Prenat Diagn. 2006 Feb;26(2):138-46. Review.PMID: 16470734 [PubMed - indexed for MEDLINE]Related citations

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.

Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, Mazurczak T, Stankiewicz P, Bocian E.

Am J Med Genet A. 2007 Nov 15;143A(22):2738-43.PMID: 17937435 [PubMed - indexed for MEDLINE]Related citations

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O.

J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31.PMID: 17766364 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.

Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC.

Mol Cytogenet. 2008 Jul 21;1:15.PMID: 18644119 [PubMed - in process]Free PMC ArticleFree textRelated citations

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).

Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW.

Am J Med Genet A. 2008 Aug 1;146A(15):1986-93.PMID: 18627051 [PubMed - indexed for MEDLINE]Related citations

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity.

Patsalis PC, Evangelidou P, Charalambous S, Sismani C.

Eur J Hum Genet. 2004 Aug;12(8):647-53.PMID: 15162125 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.

Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.

Clin Dysmorphol. 2007 Oct;16(4):253-6.PMID: 17786117 [PubMed - indexed for MEDLINE]Related citations

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.

Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2009 Jul-Aug;52(4):218-23. Epub 2009 Feb 21.PMID: 19236961 [PubMed - indexed for MEDLINE]Related citations

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.

Lebbar A, Callier P, Baverel F, Marle N, Patrat C, Le Tessier D, Mugneret F, Dupont JM.

Am J Med Genet A. 2008 Oct 15;146A(20):2651-6.PMID: 18798330 [PubMed - indexed for MEDLINE]Related citations

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report.

de Vree PJ, Simon ME, van Dooren MF, Stoevelaar GH, Hilkmann JT, Rongen MA, Huijbregts GC, Verkerk AJ, Poddighe PJ.

Mol Cytogenet. 2009 Jul 13;2:15.PMID: 19594915 [PubMed - in process]Free PMC ArticleFree textRelated citations

A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).

Armour CM, McGowan-Jordan J, Lawrence SE, Bouchard A, Basik M, Allanson JE.

Clin Dysmorphol. 2008 Jan;17(1):23-6.PMID: 18049076 [PubMed - indexed for MEDLINE]Related citations

Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report.

Joly-Helas G, de La Rochebrochard C, Mousset-Siméon N, Moirot H, Tiercin C, Romana SP, Le Caignec C, Clavier B, Macé B, Rives N.

Hum Reprod. 2007 May;22(5):1292-7. Epub 2007 Feb 5.PMID: 17283038 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Cryptic deletion of EGR1 in association with a novel balanced t(5;22)(q31;q11.2) in a patient with myelodysplastic syndrome.

Hoffman MW, Janney S, Batanian JR.

Cancer Genet Cytogenet. 2009 Jun;191(2):106-8.PMID: 19446747 [PubMed - indexed for MEDLINE]Related citations

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. Epub 2009 Jun 6.PMID: 19505601 [PubMed - indexed for MEDLINE]Related citations

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

Borg K, Bocian E, Bernaciak J, Nowakowska B, Derwińska K, Obersztyn E, Szczałuba K, Smigiel R, Kostyk E, Mazurczak T.

Med Wieku Rozwoj. 2009 Apr-Jun;13(2):81-93. Polish. PMID: 19837989 [PubMed - indexed for MEDLINE]Related citations

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA.

Eur J Med Genet. 2010 Jun 11. [Epub ahead of print]PMID: 20542150 [PubMed - as supplied by publisher]Related citations

De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.

Bayou N, M'rad R, Belhaj A, Daoud H, Ben Jemaa L, Zemni R, Briault S, Helayem MB, Chaabouni H.

J Biomed Biotechnol. 2008;2008:231904.PMID: 18475318 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M.

Eur J Med Genet. 2009 Jul-Aug;52(4):161-9. Epub 2009 Apr 9.PMID: 19362174 [PubMed - indexed for MEDLINE]Related citations

Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding.

Karadeniz N, Mrasek K, Weise A.

Mol Cytogenet. 2008 Aug 7;1:17.PMID: 18687140 [PubMed - in process]Free PMC ArticleFree textRelated citations