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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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  • Astbury C, Christ L A, Aughton D J, Cassidy S B, Kumar A, Eichler E E, Schwartz S.: Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. in Med. 6:81-89, 2004. [PubMed: 15017330]
    Patient JB:
    Initial karyotype at low resolution=46,XX,inv(2)(p21q31)de novo.,46,XX,del(2)(q24.3q31.3)de novo.
    Case ascertained prenatally, abnormal hand, right radius curved and short.
    The deletion was about 15.3 Mb and there were approximately 66 genes within this region. The breakpoints were in bands 2q31.3 between BAC RP11-553I15 and BAC RP11-253H16; and 2q24.3 between BAC RP11-279B11 and BAC RP11-646I19.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
  • Barnicoat A J, Abusaad I, Mackie C M, Robards M F.: Two sibs with partial trisomy 2q. AJMG 70:166-170, 1997. [PubMed: 9128937]
    L.B. (boy) and K.B. (girl):
    46,XY and XX,der(5)inv ins(5;2)(q22.3;q32.1q24.3) or ,der(5)dir ins(5;2)(q22.1;q24.3q32.1)pat.,Father:46,XY,inv ins(5)(5;2)(q22.3;q32.1q24.3) or,dir ins(5;2)(q22.1;q24.3q32.1).
    There were facial and developmental anomalies in the sibs.
    Parental karyotyping was critical in arriving at the correct interpretation.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 2q+
  • Bernar J, Sparkes R S, Allensworth S: Interstitial deletion 2q24.3: Case report with high resolution banding. J. Med. Genet. 22:226-228, 1985. [PMC free article: PMC1049430] [PubMed: 4009646]
    The patient died after 16 months; parental karyotypes were normal. The breakpoints may be 2q242 and 2q31.
    Aberration: Interstitial deletion
    Positive band
  • Nixon J, Oldridge M, Wilkie A O M, Smith K.: Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation. AJMG 70:324-327, 1997. [PubMed: 9188674]
    Patient was 9 years old.
    46,XY,del(2)(q24.3q32.1)de novo
    The deletion occurred in the paternally derived chromosome.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Craniosynostosis,Ocular coloboma,Limb abnormalities
  • Pescucci C, Caselli R, Grosso S, Mencarelli M A, Mari F, Farnetani M A, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A.: 2q24-q31 deletion: Report of a case and review of the literature. Europ. J. Med. Genet. 50: 21-32, 2007. [PubMed: 17088112]
    The patient was 4 years and 2 months old with several dysmorphic features
    The deletion is about 10 Mb and did not show in prenatal karyotype..
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
  • Schrock E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer L G, Papenhausen P, Kozma C, Phelan M C, Kjeldsen E, Schonberg S A, O''Brien P, Biesecker L, du Manoir S, Ried T.: Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum. Genet. 101:255-262, 1997. [PubMed: 9439652]
    Case No. EK1
    Multiple miscarriages was the mode of ascertainment.
    Aberration: Complex translocation
    Index Terms: SKY
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107060


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