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


  • Al-Awadi S A, Naguib K K, Teebi A S, Sundareshan T S: De Novo partial monosomy 21 with unusual karyotype. Jpn. J. Hum. Genet. 31:45-48, 1986. [PubMed: 3735757]
    Proband R. A. S. was 15 months old.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 21-
    Negative band
  • Pettenati M J, Jackle B, Bobby P, Stewart W, Von Kap-Herr C, Mowrey P, Rao P N, May K M.: Unexpected retention and concomitant loss of subtelomeric regions in balanced chromosome anomalies by FISH. AJMG 111:48-53; DOI=10.1002/ajmg.10535, 2002. [PubMed: 12124733]
    Patient 2:
    The 10 year-old patient was referred because of developmental delay and significantly delayed cognitive, language and adaptive skills.
    The translocated chromosome 11 showed subtelomeric signals of 11p, 11q, and 16q.
    Aberration: Reciprocal translocation
  • Slavotinek A, Gaunt L, Donnai D.: Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J. Med. Genet. 34:819-826, 1997. [PMC free article: PMC1051088] [PubMed: 9350814]
    Subjects II.3 and III.3=46,XY,t(5;11)(p15.3;p15.3).,Subjects III.2 and IV.1=46,XX and XY,der(5)t(5;11)pat respectively.
    Patients with paternally derived duplications of 11p15.5 appear to have a distinct pattern of dysmorphic features including overgrowth, macroglossia, coarse facial features and broad hands.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5p-;11p+
    Index Terms: Beckwith-Wiedemann syndrome
  • Stratakis C A, Turner M L, Lafferty A, Toro J R, Hill S, Meck J M, Blancato J.: A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion. J. Med. Genet. 38:338-343, 2001. [PMC free article: PMC1734875] [PubMed: 11403045]
    The proband, at age 14 years and 3 months, was referred because of possible acromegaly.
    46,XY,der inv(11)(p15.3q23.3)mat.
    Aberration: Inversion pericentric
    Index Terms: Acromegaloidism
    No band
  • Tagariello A, Heller R, Greven A, Kalscheuer V M, Molter T, Rauch A, Kress W, Winterpacht A.: Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region. J. Med. Genet. DOI=10.1136/jmg.2005.037820, 2005. [PMC free article: PMC2564540] [PubMed: 16258006]
    46,XY,t(9;11)(q33.1;p15.3)de novo
    The infant had syndromic craniosynostosis and other dysmorphic features.
    The chromosome 11 breakpoint is located between exons 6 and 7 of the SOX6 gene, leaving the 201 kb long 5'' part of the gene intact.
    Aberration: Reciprocal translocation
    MIM#: 607257
    Index Terms: SOX6,craniosynostosis
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106359
PubReader format: click here to try


  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • 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...