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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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  • Binkert F, Stranzinger J, Schinzel A A: "Partial trisomy of chromosome 18 (pter to q12) following a familial 18;21 translocation rcp(18;21)(q12;q11)." Hum. Hered. 40:81-84, 1990. [PubMed: 2335369]
    The one-year-old patient had multiple congenital anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 18+
    Positive band
  • 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]
    Boue J, Boue A: L''interet en diagnostic prenatal des techniques nouvelles d''identification chromosomique dans des translocations et une aneusomie de recombinaison. La Nouv. Presse Med. 2:3097-3102, 1973. [PubMed: 4595679]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    Observation No. 2088 in this report.
    Aberration: RT,ST
    Positive band
  • Davis J R, Rogers B B, Hagaman R M, Thies C A, Veomett I C: Balanced reciprocal translocations: risk factors for aneuploid segregant viability. Clin. Genet. 27:1-19, 1985. [PubMed: 3884190]
    Case 75-138.
    Aberration: Reciprocal translocation
    Positive band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Fryns J P, Vinken L, Marien J, van den Berghe H: Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype. Hum. Genet. 46:341-344, 1979. [PubMed: 437778]
    Subject P.D. in this report.
    46,XY,dup(18q)(pter->q12::q12::q12->qter).,The patient was severely mentally retarded. The finding of nonspecific dysmorphism in the patient demonstrates that trisomy of band 18q12 is accompanied by neither a full nor an incomplete 18 trisomy phenotype.
    Aberration: Duplication
    Index Terms: Edwards syndrome (trisomy 18)
    Positive band
  • Same entry as in 05p150,09p200 (Jacobs et al, 1978).
  • Lippman-Hand A, Vekemans M J J: Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers? Hum. Genet. 63:252-257, 1983. [PubMed: 6852821]
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Neu R L, Ortega C C, Barg G A, Pinto W, Gardner L I, Howell W M, Denton T E: Inclusion of satellites in an 18/21 translocation chromosome shown by ammoniacal-silver staining (sat-banding) in case of partial trisomy 18. J. Med. Genet. 13:520-522, 1976. [PMC free article: PMC1013484] [PubMed: 65472]
    Patient, with features of 18 trisomy, was studied at age seven months. Karyotype is unusual, since the translocation chromosome includes material that appears to be satellited. Parents karyotypes were normal.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18q+
    Positive band
  • Wilson G N, Heller K B, Elterman R D, Schneider N R: Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18. AJMG 36:506-510, 1990. [PubMed: 1697142]
    47,XY,+del(18)(pter -> q12:)de novo.
    The 2-year-old boy had microcephaly, developmental delay, and minimal anomalies.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18q-
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105463
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