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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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01q322

1q32.2
  • Benzacken B, Siffroi J P, Straub B, Le Bourhis C, Sauvion S, Gaudelus J, Dadoune J P, Wolf J P.: Advanced paternal age and de-novo complex chromosomal rearrangement in offspring. Hum. Reprod. 13:1801-1803, 1998. [PubMed: 9740427]
    The proband was referred because of psychomotor retardation at the age of 19 months.
    46,XY,t(1;5;13)(q32.2;q14;q12).ish t(1;5;13)(wcp13+;wcp1+;wcp5+)ins(14;13)(q12.2;q12q13).ish ins(14;13)(wcp13+;wcp13+)de novo
    Father''s age was 59 at time of conception of the proband and they already had a normal child.
    Aberration: Complex translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106594

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