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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Batanian J R, Hussain M I.: An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: uses and limitations of fluorescence in situ hybridization. Clin. Genet. 55:265-268, 1999. [PubMed: 10361988]
    The proband was 5 years old with minor anomalies, growth retardation, and developmental delay.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p+;6q-
  • Chen C P, Liu F F, Jan S W, Lin S P, Lan C C.: Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in a fetus associated with shortening of the long bones and a single umbilical artery. Prenat. Diag. 16:270-275, 1996. [PubMed: 8710784]
    The baby has MCA and was about 10 months old.
    The pregnancy continued.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p+;3p-
    Negative band
  • Josifova D J, Mazzaschi R, Ballard T, Ogilvie C M, Splitt M.: A constitutional telomeric translocation showing meiotic instability. AJMG Part A: 140A: 1228-1233, 2006. [PubMed: 16688752]
    Patient (cvs and mesenchyme cultures)=45,XY,der(8)t(8;15)(p23.3;q11.2),-15.,Father=46,XY,der(2)t(2;15)(p25.3;q11.2).
    The otherwise normal infant has developed severe asthma.
    Aberration: Simple translocation
    Index Terms: Meiotic instability
  • Lespinasse J, Testard H, Nugues F, Till M, Cordier M P, Althuser M, Amblard F, Fert-Ferrer S, Durand C, Dalmon F, Pourcel C, Jouk P S.: A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES). Ann. Genet. 47:405-417, 2004. [PubMed: 15581840]
    46,XX.ish der(10)t(2;10)(p25.3;q26.3)(Tel 2p+, Tel 10q-).
    The 30 month child has MCA and developmentally delayed. MRI performed at 3 months showed severe vermian hypogenesis with midline fusion of the two cerebellar hemispheres, suggesting RES.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+;10q-
    Index Terms: Rhombencephalosynapsis
  • Park V M, Gustashaw K M, Wathen T M: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. AJHG 50:914-923, 1992. [PMC free article: PMC1682611] [PubMed: 1570843]
    Case 6:
    46,XY,2p+ de novo.
    The patient was a newborn with MCA including small palberal features, flat nasal bridge, bifid uvula, apparently lowset ears, and a unilateral single palmar crease.
    Aberration: Simple translocation
    Index Terms: Telomeric sequences ... interstitial
    Negative band
  • Tirado C A, Henderson S, Uddin N, Stewart E, Iyer S, Matthews E, Doolittle J, Garcia R, Valdez F, Dallaire S, Appleberry T, Payne D, Collins R.: Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter. AJMG Part A: 149A: 2507-2512, 2009. [PubMed: 19876903]
    G-banding=46,XX,del inv dup(2)(qter->p25.1::p25.1->p22.21:).,46,XX,der(2)del(2)(pter)dup(2)(p25.1p22.2).ish der(2)(VIJyRM2052-,ALK++) or,46,XX,der(2)(qter->p25.1::p25.1->p22.2):ish der(2)(VIJyRM2052-,ALK++).,Arr cgh 2p25.3(RP5-892G20->RP11.90H11)X1,2p25.3p22.2(RP11-513H7,RP11-120J4, RP11-414D15, RP11-541A15,RP11-278G12)X3.,Arr cgh 10q11.22(RP11-38L15->RP11-3E9)X3
    Due to complications from the MCA infant died after 2 1/2 months.
    Aberration: Duplication
    Chromosomal Aneuploidy: 2p+
  • Zou Y S, Van Dyle D L, Ellison J W.: Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems. AJMG (Part A): 143A: 746-751, 2007. [PubMed: 17345620]
    The 7 year-old was referred with a diagnosis of pervasive developmental disorder.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p-; 16q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105937
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