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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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03q130

3q13
  • Bass H N, Sparkes R S, Crandall B F, Tannenbaum S M: Familial partial trisomy 10q(q23 to qter) syndrome and paracentric inversion 3(q13q26) in the same patient. Ann. Genet. 21:74-77, 1978.
    46,XX,t(9;10)(p24;q23).&46,XY,inv(3)(q13q26).&"46,XY,der inv(3)(q13q26)pat,der(9)der(10)t(9;10)(p24;q23)mat."&"46,XX,inv(3)(q13q26),-9,+der(9)t(9;10)(p24;q23)pat."&Findings in this patient: growth and mental retardation, hypotonia, microcephaly, round, flat face with wide forehead, narrow palpebral fissures, low-set ears, bow-shaped mouth, micrognathia, cleft palate, abnormal hands and feet.
    Aberration: Inversion paracentric
    Index Terms: Cleft lip/palate,Ears ... low-set,Face ... broad, round flat,Foot ... anomalies,Forehead ... wide,Hand ... anomalies,Hypotonia,Microcephaly,Micrognathia,Mouth ... bow shaped,Palpebral fissures ... narrow
    Positive band
  • Same entry as in 03p140 (Boue and Gallano, 1984).

  • 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(3;8)(q13;q24); t(3;14)(q13;q31).
    Aberration: Reciprocal translocation
    Positive band
  • Same entry as in 0Xp210 (Canki et al, 1979).

  • Cannizzaro L A, Ladda R L, 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 No. 353.
    46,XX,t(3;10)(q13;p15)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Crandall B, 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 No. 1741.
    46,XX,inv(3)(q13q21)mat.
    Aberration: Inversion paracentric
    Positive band
  • Same entry as in 03p250 (Fineman et al, 1978).

  • FitzSimmons J, Wapner R J, Jackson L G: Repeated pregnancy loss. AJMG 16:7-13, 1983. [PubMed: 6638072]
    46,XY,t(3;6)(q13;q23).
    Aberration: Simple translocation
    Positive band
  • Jackson L G, 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 No. 328.
    46,XY,t(3;6)(q13;q23).
    Aberration: Reciprocal translocation
    Positive band
  • Same entry as in 02q220 (Kitsiou et al, 1987).

  • Same entry as in 03p120 (Kleczkowska A et al, 1987).

  • Same entry as in 0Xq130 (Leana-Cox et al, 1993).

  • Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    Case 2.
    t(3;8)(q13;q24).
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Positive band
  • Mulcahy M T, Pemberton P J, Sprague P: Trisomy 3q: Two clinically similar but cytogenetically different cases. Ann. Genet. 4:217-220, 1979. [PubMed: 317784]
    Case 2 in this report.
    46,XY,-14,+der(14),t(3;14)(q13;q32).&"46,XY,-14,+der(14)t(3;14)(14pter -> 14q32::3p13 -> 3qter)."&Both parents had normal karyotypes.
    Aberration: Reciprocal translocation
    Positive band
  • Palmer C, 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 No. 309.
    46,XX,t(3;4)(q13;q35)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Pinno E, 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. 326 and 327.
    46,XX & XY,t(3;6)(q13;q23)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,t(3;13)(q13;q33).
    Aberration: Reciprocal translocation
    Positive band
  • Same entry as in 03p270 (Retief et al, 1984).

  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XY,inv(3)(q13q27).
    Aberration: Inversion paracentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Sanchez J M, Labarta J D, de Negrotti T C, Migliorini A M: Complex translocation in a boy with trichorhinophalangeal syndrome. J. Med. Genet. 22:314-316, 1985. [PMC free article: PMC1049458] [PubMed: 4045963]
    Patient was 3 years old; parents were 18 and 31 years old.
    46,XY,t(3;8;11)(3pter -> 3q13::8p22 -> 8pter;11qter -> 11q21::8p22 -> 8q13::11p12 -> 11pter;3qter -> 3q13::11p12 -> 11q21::8q13 -> 8qter).
    Aberration: Complex translocation
    MIM#: 150230
    Index Terms: Tricho-Rhino-Phalangeal syndrome
    Positive band
  • Shah H O, 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 No. 370
    46,XY,t(3;14)(q13;q22).
    Observation No. 371.
    46,XY,t(3;14)(q13;q32)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Smith A, den Dulk G, Murray R, Birrell W: Complex translocation in habitual abortion. Hum. Genet. 70:287, 1985. [PubMed: 4018794]
    Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Case 12, KF
    46,XX,t(3;5;11)(3pter -> 3q13::11q14 -> 11qter;5pter -> 5q35::3q13 -> 3qter;11pter -> 11q14::5q35 -> 5qter).
    Aberration: Complex translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A.: Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum. Reprod. 11:2609-2612, 1996. [PubMed: 9021360]
    46,XX,t(3;9)(q13;q34).
    46,XY,t(3;20)(q13;q13)
    Aberration: Reciprocal translocation
    Index Terms: ICSI
    No band
  • Same entry as in 01q240 (Tomkins D J et al, 1992).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105871
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