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    Results: 1 to 20 of 120

    1.

    Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

    Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A.

    Orphanet J Rare Dis. 2011 Apr 19;6:17.

    PMID:
    21504564
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

    Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

    Genet Med. 2007 Sep;9(9):607-16. Review.

    PMID:
    17873649
    [PubMed - indexed for MEDLINE]
    3.

    Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

    Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A.

    Am J Med Genet A. 2007 Jan 15;143(2):172-8.

    PMID:
    17163532
    [PubMed - indexed for MEDLINE]
    4.

    Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

    Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E.

    Am J Med Genet A. 2004 Sep 1;129A(3):254-60.

    PMID:
    15326624
    [PubMed - indexed for MEDLINE]
    5.

    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]
    6.

    Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.

    Papadopoulou E, Sismani C, Christodoulou C, Ioannides M, Kalmanti M, Patsalis P.

    Am J Med Genet A. 2010 Jun;152A(6):1515-22.

    PMID:
    20503328
    [PubMed - indexed for MEDLINE]
    7.

    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]
    8.

    A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

    Gimelli S, Makrythanasis P, Stouder C, Antonarakis SE, Bottani A, Béna F.

    Eur J Med Genet. 2011 Jan-Feb;54(1):94-6. Epub 2010 Oct 8.

    PMID:
    20933621
    [PubMed - indexed for MEDLINE]
    9.

    Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

    Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.

    BMC Med Genet. 2008 Apr 11;9:27.

    PMID:
    18405349
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

    Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J.

    Am J Med Genet A. 2005 Nov 15;139(1):32-6.

    PMID:
    16222686
    [PubMed - indexed for MEDLINE]
    11.

    A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.

    Chen CP, Lin SP, Tsai FJ, Chern SR, Lee CC, Wang W.

    Eur J Med Genet. 2008 Jul-Aug;51(4):368-72. Epub 2008 Mar 29.

    PMID:
    18458017
    [PubMed - indexed for MEDLINE]
    12.

    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 PMC Article
    13.

    An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.

    Butler MG, Bittel DC, Kibiryeva N, Cooley LD, Yu S.

    Am J Med Genet A. 2010 Feb;152A(2):404-8. Erratum in: Am J Med Genet A. 2010 May;152A(5):1331-2.

    PMID:
    20082457
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

    Bonthron DT, Smith SJ, Fantes J, Gosden CM.

    Am J Hum Genet. 1993 Sep;53(3):629-37.

    PMID:
    8352273
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

    Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V.

    Am J Med Genet A. 2010 Apr;152A(4):1008-12.

    PMID:
    20358617
    [PubMed - indexed for MEDLINE]
    17.

    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 Sep-Oct;53(5):227-33. Epub 2010 Jun 11.

    PMID:
    20542150
    [PubMed - indexed for MEDLINE]
    18.

    De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.

    Goumy C, Mihaescu M, Tchirkov A, Giollant M, Benier C, Francannet C, Jaffray JY, Geneix A, Vago P.

    Genet Couns. 2006;17(3):371-9.

    PMID:
    17100206
    [PubMed - indexed for MEDLINE]
    19.

    22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

    Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A.

    Am J Hum Genet. 2008 Jan;82(1):214-21.

    PMID:
    18179902
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    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]
    Free PMC Article

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