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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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  • Atkins L, Milunsky A, Shahood J M: Prenatal Diagnosis: Detailed chromosome analysis in 500 cases. Clin. Genet. 6:317-322, 1974. [PubMed: 4216438]
    46,XX,t(2p-;4q+).&This balanced translocation was found in the amniotic fluid material.
    Aberration: Simple translocation
    No band
  • de Grouchy J, Aussannaire M, Brissaud P E, Lamy M: Aneusomie de Recombinaison: Three further examples. AJHG 18:467-484, 1966. [PMC free article: PMC1706182] [PubMed: 5927289]
    Case 2 in this report.
    46,XX,t(2;B)(p;p1).&"46,XX and XY,der(2),der(B),t(2;B)(p;p1)mat."
    Case 3 in this report.
    46,XX,inv(2)(pq).
    Aberration: ST,PI
    No band
  • Handmaker S D, Hall B D, Conte F A: A new recognizable syndrome associated with a chromosomal abnormality. BD-OAS XI(No. 5):181-189, 1975. [PubMed: 1218211]
    Case 1 (M.D.) in this report.
    46,XY,der(2p-),der(4p-),der(7p+),der(8q+)mat.
    Case 2 (S.D.) in this report.
    46,XY,-8,+der(8q+)mat.
    Case 3 (E.D.) in this report.
    46,XX,2p-,4p-,7p+,8q+.
    Aberration: Complex translocation
    No band
  • Lev D, Malinger G, Chaki R, Reichler A, Glazerman M.: Two de-novo balanced autosomal translocations after intracytoplasmic sperm injection. Lancet 353:119, 1999. [PubMed: 10023902]
    45,XX,t(2p;6q)de novo,rob(14q21q)de novo.
    Case ascertained prenatally after genetic counseling. Mother was 32 years old, had an ICSI pregnancy, and had amniocentesis at 17 weeks. Pregnancy terminated at 26 weeks. No malformations were seen and karyotype was confirmed in blood cultures.
    Aberration: DA,ST
    Index Terms: ICSI
  • Michels V V, Medrano C, Venne V L, Riccardi V M: Chromosome translocations in couples with multiple spontaneous abortions. AJHG 34:507-513, 1982. [PMC free article: PMC1685330] [PubMed: 7081226]
    46,XX,inv(2).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Shokeir M H K, Ying K L, Pabello P D: Deletion of the long arm of chromosome No. 7: Tentative assignment of the Kidd (Jk) locus. Clin. Genet. 4:360-368, 1973. [PubMed: 4518278]
    46,XX,t(2;7)(p;pq).&The interpretation for the karyotypic abnormality is quite complex. It is believed that there is partial monosomy for the long arm of 7.
    No band
  • Singh R P, Jaco N T, Vigna V: Pierre Robin syndrome in siblings. AJDC 120:560-561, 1970. [PubMed: 5481910]
    46,XY,inv(2)(pq).&46,XY,der(2)inv(2)(pq)pat.
    Aberration: Inversion pericentric
    MIM#: 261800
    Index Terms: Pierre Robin syndrome
    No band
  • 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]
    Data from McMaster U. Med. C., Hamilton, Ont. Canada.
    46,XX,t(2p;10q).
    Delayed development at 21 months.
    Aberration: Reciprocal translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105589
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