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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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02q340

2q34
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(2;10)(q34;q22).
    Aberration: Reciprocal translocation
    Positive band
  • Higgins J V, Center J, In, Daniel A, Hook E B, Wulf G:
    Kalousek D K, 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 Nos. 260 and 261.
    46,XY,t(2;13)(q34;q11).
    Observation No. 284.
    46,XX,t(2;18)(q34;p11).
    Aberration: Reciprocal translocation
    Positive band
  • Laurent C, Biemont M C, Guibaud P, Guillot J, Noel B, Quack B, Geneviene M, Cressens M L: "Sept cas de trisomie 2q34 to 2qter par transmission familiale d''une translocation t(2;8)(q34;p23)." Ann. Genet. 21:13-18, 1978. [PubMed: 308338]
    46,XX and XY,t(2;8)(q34;p23)mat and pat.&"46,XX and XY,-8,+der(8)t(2;8)(q34;p23)mat and pat."&"46,XX and XY,-8,+der(8)t(2;8)(8qter -> 8p23::2q34 -> 2qter)mat and pat."&"Seven patients from two different families are trisomic 2q34 -> 2qter due to segregation of a familial t(2;8)(q34;p23). The clinical features are characteristic: microcephaly, a narrow forehead with bossing and temporal retraction, hypertelorism, palpebral fissures slanted downwards, large irides, and a very concave margin of the lower eyelid. Mental retardation is severe with a mean IQ of 50."
    Aberration: Simple translocation
    Index Terms: Forehead ... narrow,Hypertelorism,Microcephaly,Palpebral fissures ... downward slanting
    Positive band
  • Lundbech P E, Thogersen T: Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2. Hum. Genet. 82:92-93, 1989. [PubMed: 2714786]
    46,XY,rec(2)del q,t(2;7)(2pter -> 2q34::7p21 -> 7pter;7qter -> 7p21::2q36 -> 2qter)de novo deletion.
    The 5 month old boy showed developmental retardation, low-set ears, micrognathia, short neck, abundent skin of the neck, tetralogy of the fallot, bipartite labialike scrotum, clitorislike penis, cryptorchism, and deformities of the hands and feet.,Parental karyotypes were normal.
    Aberration: ST,ID
    Chromosomal Aneuploidy: 2q-
    Positive band
  • Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A.: Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features. Clin. Genet. 64:497-501;DOI=10.1046/j.1399-0004.2003.00176.x, 2003. [PubMed: 14986829]
    46,XX,del(q34)de novo
    A 14-year-old with autism and some features similar to Rett syndrome (RTT). She is dyspraxic and shows frequent hand-washing stereotypic activities, hyperpnea, and bruxism.
    The deletion is paternal in origin.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Rett syndrome, Autism
  • Teshima I E, Winsor E J T, Van Allen M I: "Trisomy 18 and a constitutional maternal translocation (2;18)." AJMG 43:759-761, 1992. [PubMed: 1621770]
    46,XX,t(2;18)(q34;q12)-mother.&47,XX,+18-proband.
    Mother had spontaneous abortion. The trisomy baby died shortly after birth.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 18+
    Positive band
  • Yu C W, Chen H: De novo inverted tandem duplication of the long arm of chromosome 2 (q34 to q37). BD-OAS XVIII(No. 3B):311-320, 1982. [PubMed: 7139114]
    46,XX,inv dup(2)(q34 -> q37) or (pter -> q37::q37 -> q34).
    Patient was 22 months and had multiple congenital anomalies.
    Aberration: Inverted insertions within a chromosome
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106706
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