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


  • Akahoshi K, Moriwaki S-I, Kimiya S, Takahashi I, Fukushima Y.: Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation. AJMG 101:153-157, 2001. [PubMed: 11391659]
    The clinical manifestations resemble those of XP and CS. She had a history of easy sunburning and presented a number of freckles and hypopigmented spots on her face. MRI demonstrated intracranial abnormalities.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p-;10q+
    Index Terms: UV hypersensitivity
  • Baruch A C, Erickson R P.: Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). AJMG 100:187-190, 2001. [PubMed: 11343302]
    Patient 1 6 1/2 years of age and his sister, patient 2, was 13 1/2 months old.
    46,XX or XY,der(6)t(6;8)(p25.1;q24.23)mat.
    The siblings possess Axenfeld-Rieger anomaly (ARA), hypertelorism, clinodactyly, and cardiac anomalies.
    Aberration: Reciprocal translocation
    MIM#: 109120
    Chromosomal Aneuploidy: 6p-;8q+
    Index Terms: Axenfeld-Rieger anomaly
  • Stohler R, Kucharski E, Farrow E, Torres-Martinez W, Delk P, Thurston V C, Vance G H.: A case of de novo partial tetrasomy of distal 6p and review of the literature. AJMG Part A: DOI=10.1002/ajmg.a.31678, 2007. [PubMed: 17663466]
    46,XX,add(8)(p23.3).,46,XX,der(8)t(6;8)(p24.3;p23.3).,46,XX,der(8)t(6;8)(p25.1;p23.3)dup(6)(p25.1p25.3).arr cgh 6p25.1p25.3 (RP11-274H24->RP3-416J7)x4.
    Patient was 3 years old with MCA, psychomotor retardation, and growth delay.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+
  • Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H.: Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. AJMG DOI=10.1002/ajmg.a.31085; 140A:503-508, 2006. [PubMed: 16470791]
    46,XX,del(6)(p25.1)de novo
    A newborn was evaluated because of right buphthalmos and bilateral persistent hyperplastic primary vitreous (PHPV).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: Axenfeld-Rieger syndrome,Persistent hyperplastic primary vitreous (PHPV)
  • Zhang H Z, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober B R.: FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. AJMG DOI=10.1002/ajmg.a.20413, 2003. [PubMed: 14708101]
    Patient was 15 months old.
    46,XY,r(6)(p25q27)de novo.ish r(6)(p25.1q27)(D6S344-,FOXC1-,D6S1574+,D6S281-,D6S297+).
    Aberration: Ring chromosome
    MIM#: 601090
    Chromosomal Aneuploidy: 6p-;6q-
    Index Terms: Eye anomalies,FOXC1
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107066
PubReader format: click here to try


  • PubReader
  • Print View
  • Cite this Page

Related information

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...