NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details


  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Keppler-Noreuil K, Carroll A J, Finley W H, Rutledge S L.: Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes. J. Med. Genet. 32:619-622, 1995. [PMC free article: PMC1051636] [PubMed: 7473653]
    Three patients are presented:
    46,XX,del(1)(qter->p36.22:)de novo.
    Growth failure, microsomia, cardiomyopathy and hydrocephalus were found in the two types.
    The authors suggest that different phenotypic subgroups may exist because of differences in the parental origins of the deleted chromosome or of variations in undetectable amounts of genetic material.
    Chromosomal Aneuploidy: 1p-
    Negative band
  • Neal J, Apse K, Sahin M, Walsh C A, Sheen V L.: Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. AJMG Part A: 140A: 1692-1695, 2006. [PubMed: 16835933]
    Patient was 3 years old.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1p-
    Index Terms: Periventricular nodular heterotopia (PH)
  • Park V M, Gustashaw K M, Wathen T M: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. AJHG 50:914-923, 1992. [PMC free article: PMC1682611] [PubMed: 1570843]
    Case 8:
    46,XX or XY,t(1;10)(p36.22;q26.3).
    The rearrangement was first detected in the husband of a couple referred for multiple spontaneous abortions.
    Subsequently, the couple delivered a daughter who is also a balanced carrier.
    Aberration: Reciprocal translocation
    Index Terms: Telomeric sequences ... interstitial
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106966


  • PubReader
  • Print View
  • Cite this Page

Related information

  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...