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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-.

Cover of Chromosomal Variation in Man

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

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Hypomelanosis of Ito

  • Keng W T, Harewood L, Grace E, Paxton C, Lam W W K, FitzPatrick D R.: A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH. AJMG DOI=10.1002/ajmg.a.31190; 140A: 1111-1113, 2006. [PubMed: 16596668]
    Blood=46,XY[50].,Skin=mos46,XY,t(1;9)(q21 or q23;q22)[4]/46,XY[46].
    The patient was 6.5 years old.
    MIM#: 146150
  • Lenzini E, Bertoli P, Artifoni L, Battistella P A, Baccichetti C, Peserico A: Hypomelanosis of Ito: involvement of chromosome aberrations in this syndrome. Ann. Genet. 34:30-32, 1991. [PubMed: 1952789]
    6 females and 1 male were studied.
    No evidence of mosaicism found.
    MIM#: 146150
  • Ritter C L, Steele M W, Wenger S L, Cohen B A: Chromosome mosaicism in hypomelanosis of Ito. AJMG 35:14-17, 1990. [PubMed: 2301465]
    mos46,XY/46,XY,r(22).
  • Sybert V P, Pagon R A: "Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)." Hum. Genet. 93:227, 1994. [PubMed: 8112757]
  • Vormittag W, Ensinger C, Roff M: Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). Clin. Genet. 41:309-314, 1992. [PubMed: 1623628]
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105475

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