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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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03p141

3p14.1
  • Petek E, Kroisel P M, Wagner K.: Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly. Clin. Genet. 54:406-412, 1998. [PubMed: 9842993]
    46,XX,der t(3;19)(p14.1;p13.1)mat.,Maternal grand-father was also a translocation carrier.
    Chromosome analysis was performed after abnormal ultrasound findings in the 25th week. Examination at autopsy showed MCA, including holoprosencephaly, very short neck and a gap between the first and second toe.
    Aberration: Reciprocal translocation
    MIM#: 142945
    Index Terms: Holoprosencephaly
  • Wiley J E, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 343.
    46,XY,t(3;8)(p14.1;p23.1)pat.
    Aberration: Reciprocal translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105774

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