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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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03q111

3q11.1
  • Brennan P, Croaker G D, Heath M.: Congenital diaphragmatic hernia and interstitial deletion of chromosome 3. J. Med. Genet. 38:556-558, 2001. [PMC free article: PMC1734912] [PubMed: 11494969]
    46,XY,del(3)(q11.1q13.2)/47,XY,del(3)(q11.2q13.2),+r(3).
    The infant died on the second day after birth.
    Aberration: ID,RI
    MIM#: 142340
    Chromosomal Aneuploidy: 3q-
    Index Terms: Congenital diaphragmatic hernia
  • Liu J Y, Ji M F, Wang X R, Luo R L, Ren X, Liu M, Wang Q K. : Detection of human chromosomal abnormalities using a new technique combining 4'',6-diamidino-2-phenyl-indole staining and image analysis. Clin. Genet. 69: 65-71, 2006. [PubMed: 16451138]
    Liu J Y, Ji M F, Wang X R, Luo R L, Ren X, Liu M, Wang Q K. : Detection of human chromosomal abnormalities using a new technique combining 4'',6-diamidino-2-phenyl-indole staining and image analysis. Clin. Genet. 69: 65-71, 2006. [PubMed: 16451138]
    Case 1=46,XX,t(3;21)(3pter->3q11.1;,21qter->21p13::3q11.1->3qter),t(12;18)(12pter->12q21.2::18q23->18qter;18pter->18q23::12q21.2->12qter).,The t(12q21.1;18q23) was reciprocal, while t(3q11.1;21p13) was non-reciprocal. The segment 21pter->21p13 was lost.
    The 29 year old patient had two spontaneous abortions.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106978

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