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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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  • Castermans D, Wilquet V, Parthoens E, Huysmans C, Steyaert J, Swinnen L, Fryns J-P, Van de Ven W, Devriendt K.: The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J. Med. Genet. 40:352-356, 2003. [PMC free article: PMC1735479] [PubMed: 12746398]
    525 subject with autism were karyotyped.
    46,XY,t(14;16)(q12;q24.3)de novo.
    Aberration: Simple translocation
  • Coveler K J, Yang S P, Sutton V R, Milstein J M, Wu Y-Q, Knox-Du Bois C, Beischel L S, Johnson J P, Shaffer L G. : A case of segmental paternal isodisomy of chromosome 14. Hum. Genet. 110:251-256, 2002. [PubMed: 11935337]
    46,XY,segmental paternal isodisomy (14q12->14qter).
    The patient had MCA.
    Aberration: Uniparental disomy
    Index Terms: UPD
  • Hecht F, McCaw B K, Koler R D: Ataxia-telangiectasia-clonal growth of translocation lymphocytes. NEJM 289:286-291, 1973. [PubMed: 4515676]
    46,XY,t(14;14)(q12;q31).&See entries under Chromosomal Breakage Syndromes - Ataxia telangiectasia, in particular, McCaw et al (1975) and Oxford et al (1975). It appears that this band region is invariably involved in chromosomal rearrangements.
    Aberration: Simple translocation
    Index Terms: Ataxia-telangiectasia
    Positive band
  • Same entry as in 07p150,07q340 (Junge et al, 1991).
  • Kamnasaran D, O''Brien P C M, Schuffenhauer S, Quarrell O, Lupski J R, Grammatico P, Ferguson-Smith M A, Cox D W.: Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. AJMG 102:173-182, 2001. [PubMed: 11477612]
    Shapira S K, Anderson K L, Orr-Urtregar A, Craigen W J, Lupski J R, Shaffer L G: De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. AJMG 52:44-50, 1994. [PubMed: 7977460]
    Patient 777:
    46,XX,del(14)(q12q22)de novo.
    Patient was 1 year old with MCR/MR and of Vietnamese origi n.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 14q-
    Positive band
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case No. 25=47,XY,+mar.rev ish enh(14)(q12q12).
    Case ascertained prenatally, and the pregnancy was terminated.
    Chromosomal Aneuploidy: 14q+
  • Lee C, Fowler D J, Lemyre E, Sandstrom M McH, Holmes L B, Morton C C.: Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. AJMG 100:246-250, 2001. [PubMed: 11343311]
    The 32 year old presented at 33 weeks because of preterm labor. The infant had MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 14q+;21q-
    No band
  • Petek E, Plecko-Startinig B, Windpassinger C, Egger H, Wagner K, Kroisel P M.: Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with severe phenotypic anomalies. J. Med. Genet. 40:e47, 2003. [PMC free article: PMC1735414] [PubMed: 12676920]
    The 2 1/2 year old boy had microcephaly, psychomotor retardation, bilateral optic atrophy, hypodontia, and several dysmorphic features.
    The deleted chromosome 14 was of maternal origin.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 14q-
  • Reddy K S, Thomas I M: Significance of acquired nonrandom 7/14 translocations. AJMG 22:305-310, 1985. [PubMed: 4050862]
    Eight patients were studied and found to have t(7;14) translocations in a metaphase.
    t(7;14)(p13 or q35;q12).
    Aberration: Reciprocal translocation
    Positive band
  • Shah-Reddy I, Mayeda K, Mirchandani I, Koppitch F C: "Sezary syndrome with a 14:14(q12;q31) translocation." Cancer 49:75-79, 1982. [PubMed: 7053821]
    Patient was 71 years old with the t(14;14) present consistently in majority of the lymphocytes.
    Positive band
  • Soler A, Sanchez A, Carrio A, Badenas C, Mila M, Margarit E, Borrell A. : Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14'', 15, and 21 leading to balanced and unbalanced rearrangements in offspring. AJMG DOI=10.1002/ajmg.a.30640; 134A:309-314, 2005. [PubMed: 15732062]
    Father=46,XY,t(14;15)(q24.1;q24),t(14;21)(q13;q22.1).,Fetus=46,XY,der(14)t(14;21)(q13;q22.1)pat,der(15)t(14;15)(q24.1;q24)pat,rec(21)t(14;21)(q13;q22.1)t(14;15)(q21.1;q24)pat or 46,XY,t(14;15;21)(14pter->14q12::21q22.1->21qter;15pter->15q24::14q24.1->14qter;21pter->21q22.1::14q13->14q24.1::15q24->15qter)pat.,Daughter=46,XX,-21,+der(14)t(14;21)(q13;q22.1)pat.
    An Arabian (from Morocco) family was ascertained during prenatal diagnosis because of family history of a chromosome abnormality. The 18 month old daughter with arthrogryposis had MCA and a paternal inverted 21.
    Aberration: RT,CT
    Chromosomal Aneuploidy: 14q+;21q-
  • Verma R S, Kleyman S M, Conte R A, Laqui-Pili C, Bennett H.: Tandem duplication of chromosome 14 (q12q13). Ann. Genet. 40:209-210, 1998. [PubMed: 9526614]
    46,XY,dup(14)(q12q13)de novo
    A 9yo Egyptian by was evaluated for speech and language delay.
    Aberration: Duplication
    Chromosomal Aneuploidy: 14q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106570


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