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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Azar G M, Conte R A, Kleyman S M, Logush A Z, Verma R S.: Probing the human genome in search for a new 3q syndrome. Ann. Genet. 42:95-100, 1999. [PubMed: 10434123]
    The patient was 7 years old with dysmorphic features and developmental delay.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3q+;4q-
  • Faas B H W, de Vries B B A, Es-van Gaal J, Merkx G, Draaisma J M T, Smeets D F C M.: A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin. Genet. 62:315-320, 2002. [PubMed: 12372060]
    Patient JvD was 8 months old with MCA:
    46,XY,der(3).ish dup(qterq26.3)(wcp3+,Cc13-67++,Cc3-764+++,PAC 196b4+).
    Aberration: Duplication
    Chromosomal Aneuploidy: 3q+
  • Driggers R W, Macri C J, Greenwald J, Carpenter D, Avallone J, Howard-Peebles P N, Levin S W.: Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2). AJMG 87:201-202, 1999. [PubMed: 10564870]
    Fantes J, Ragge N K, Lynch S-A, McGill N I, Collin J R O, Howard-Peebles P N, Hayward C, Vivian A J, Williamson K, van Heyningen V, FitzPatrick D R.: Mutations in SOX2 cause anophthalmia. Nature Genet. 33:461-463, 2003. [PubMed: 12612584]
    Aberration: Simple translocation
    Index Terms: SOX2,Anophthalmia
  • Ireland M, English C, Cross I, Lindsay S, Strachan T.: Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. J. Med. Genet. 32:837-838, 1995. [PMC free article: PMC1051721] [PubMed: 8558571]
    Tonkin E T, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang T-J, Ireland M, Burn J, Krantz I D, Carr P, Strachan T. : A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum. Genet. DOI=10.1007/s00439-004-1134-6, 2004. [PMC free article: PMC4894837] [PubMed: 15168106]
    46,XX,t(3;17)(q26.3;q23.1)de novo.
    The CLS syndrome was present in this infant with severe limb reduction defect.
    The 1995 letter to the editor shows FISH data indicating trisomy for 3q26.3 by probe 886e7 (CEPH). The NAALADL2 gene, spans 1.37 Mb, was at the 3q26.3 breakpoint location. The 2004 study strongly suggests that this gene is not involved in the pathogenesis of CdLS.
    Aberration: Reciprocal translocation
    MIM#: 122470
    Index Terms: Limb reduction defect
    Positive band
  • Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K.: Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype. AJMG Part (A): 146A: 1967-1971, 2008. [PubMed: 18561337]
    The 3.5 year old patient revealed a developmental quotient of 38-39.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 3q+
    Index Terms: Supernumerary marker chromosome (SMC), Neocentromere marker chromosome (NMC)
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    Aberration: Reciprocal translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106779


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