PubMed

Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.

Sills ES, Burns MJ, Parker LD, Carroll LP, Kephart LL, Dyer CS, Papenhausen PR, Davis JG.

Orphanet J Rare Dis. 2007 Feb 12;2:9.PMID: 17295911 [PubMed - indexed for MEDLINE]Related articlesFree article

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]Related articles

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L]. PMID: 18245432 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW.

Am J Med Genet A. 2008 Sep 1;146A(17):2242-51.PMID: 18663743 [PubMed - indexed for MEDLINE]Related articlesFree article

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F.

Am J Med Genet A. 2008 Aug 15;146A(16):2094-102.PMID: 18629875 [PubMed - indexed for MEDLINE]Related articles

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. Review.PMID: 18837054 [PubMed - indexed for MEDLINE]Related articles

High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.

Hermsen MA, Tijssen M, Acero IH, Meijer GA, Ylstra B, Toral JF.

Eur J Med Genet. 2005 Jul-Sep;48(3):310-8.PMID: 16179226 [PubMed - indexed for MEDLINE]Related articles

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.

Caliebe A, Waltz S, Jenderny J.

Clin Genet. 1997 Aug;52(2):116-9. Review.PMID: 9298747 [PubMed - indexed for MEDLINE]Related articles

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC.

Eur J Med Genet. 2007 Jan-Feb;50(1):73-8. Epub 2006 Oct 11.PMID: 17194633 [PubMed - indexed for MEDLINE]Related articles

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features.

Dawson AJ, Putnam S, Schultz J, Riordan D, Prasad C, Greenberg CR, Chodirker BN, Mhanni AA, Chudley AE.

Clin Genet. 2002 Dec;62(6):488-94.PMID: 12515261 [PubMed - indexed for MEDLINE]Related articles

Mild developmental delay in terminal chromosome 6p deletion.

Chen KM, Cherry AM, Hahn JS, Enns GM.

Am J Med Genet A. 2004 Aug 30;129A(2):201-5.PMID: 15316977 [PubMed - indexed for MEDLINE]Related articles

Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.

Gamerdinger U, Eggermann T, Schubert R, Schwanitz G, Kreiss-Nachtsheim M.

Am J Med Genet A. 2008 May 1;146A(9):1180-4.PMID: 18386807 [PubMed - indexed for MEDLINE]Related articles

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation.

Rujirabanjerd S, Suwannarat W, Sripo T, Dissaneevate P, Permsirivanich W, Limprasert P.

Am J Med Genet A. 2007 Feb 1;143(3):271-6.PMID: 17236205 [PubMed - indexed for MEDLINE]Related articles

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.

Davidsson J, Collin A, Björkhem G, Soller M.

BMC Med Genet. 2008 Jan 14;9:2.PMID: 18194513 [PubMed - indexed for MEDLINE]Related articlesFree article

6q subtelomeric deletion: is there a recognizable syndrome?

Stevenson DA, Brothman AR, Carey JC, Chen Z, Dent KM, Bale JF Jr, Longo N.

Clin Dysmorphol. 2004 Apr;13(2):103-6.PMID: 15057127 [PubMed - indexed for MEDLINE]Related articles

Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype.

Ko WT, Lam WF, Lo FM, Chan WK, Lam TS.

Am J Med Genet A. 2003 Jul 30;120A(3):413-7.PMID: 12838565 [PubMed - indexed for MEDLINE]Related articles

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

Spruijt L, Engelen JJ, Bruinen-Smeijsters IP, Albrechts JC, Schrander J, Schrander-Stumpel CT.

Am J Med Genet A. 2004 Sep 1;129A(3):312-5.PMID: 15326635 [PubMed - indexed for MEDLINE]Related articles

Subtelomeric rearrangements in idiopathic mental retardation.

Velagaleti GV, Robinson SS, Rouse BM, Tonk VS, Lockhart LH.

Indian J Pediatr. 2005 Aug;72(8):679-85.PMID: 16131774 [PubMed - indexed for MEDLINE]Related articles

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW.

Am J Hum Genet. 2004 Jun;74(6):1286-93. Epub 2004 Apr 21.PMID: 15106122 [PubMed - indexed for MEDLINE]Related articlesFree article

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]Related articlesFree article