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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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03p260

3p26
  • Anneren G, Gustavson K H, Jagell S: Partial trisomy for the distal part of chromosome 22(22q12 to qter) in a mentally retarded girl with congenital birth defects. Hereditas 100:115-119, 1984. [PubMed: 6725002]
    46,XX,t(3;22)(p26;q12)pat-mother.
    46,XX,t(3;22)(p26;q12)mat.&"46,XX,-3,+der(3)t(3;22)(3qter -> 3p26::22q12 -> 22qter)mat."
    Aberration: Simple translocation
    Positive band
  • Bader P I, Haney S M, Munsick R A, Schubert S R, Hodes M E: Neural tube defects in dup(11q). AJMG 19:5-8, 1984. [PubMed: 6496572]
    46,XX and XY,t(3;11)(p26;q21).&"46,XX,-3,-11,+der(3)der(11)t(3;11)(3qter -> 3p26::11q21 -> 11qter;11pter -> 11q21::3p26 -> 3pter)mat."&"46,XY,-3,+der(3)t(3;11)(3qter -> 3p26::11q21 -> 11qter)mat."
    Aberration: Reciprocal translocation
    Positive band
  • Bonioli E, Crisalli M, Monteverde R, Vianello M G: Karyotype-phenotype correlation in partial trisomy 13. AJDC 135:1115-1117, 1981. [PubMed: 7315808]
    Patient was 3 months old. Karyotypes of maternal grandparents were normal.
    46,XX,t(3;13)(p26;q22).&"46,XX,-3,+der(3)t(3;13)(3qter -> 3p26::13q22 -> 13qter)mat."
    Aberration: Simple translocation
    Positive band
  • Chase T R, Jalal S M, Martsolf J T, Wasdahl W A: Duplication 6q24 to 6qter in an infant from a balanced translocation. AJMG 14:347-351, 1983. [PubMed: 6837629]
    46,XY,t(3;6)(p26;q2402).&"46,XX,-3,+der(3)t(3;6)(3qter -> 3p26::6q2402 -> 6qter)pat."
    Aberration: Simple 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. 1228.
    46,XX,inv(3)(p26q24).&46,XX,rec(3)dup q,inv(3)(p26q24)mat.
    Aberration: PI,RE
    Positive band
  • Dallapiccola B, Mastroiacovo P P, Montali E, Sommer A: Trisomy 4p: five new observations and overview. Clin. Genet. 12:344-356, 1977. [PubMed: 563312]
    Case 3 in this report. Patient died at 8 months of age.
    46,XY,t(3;4)(p26;q13).&"46,XX,der(3)der(4)t(3;4)(p26;q13)pat."&"47,XY,+der(4)t(3;4)(p26;q13)mat."&"47,XY,+der(4)t(3;4)(4pter -> 4q13::?)mat."
    Aberration: Simple translocation
    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 80-158.
    t(3;10)(p26;p11)mat.
    Aberration: Reciprocal translocation
    Positive band
  • de Albuquerque Coelho K-E F, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N. : Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting. AJMG 63:468-471, 1996. [PubMed: 8737654]
    Case 2:
    46,XY,der(3)t(3;7)(3qter->3p26::7q32->7qter).
    The patient was studied because of MCA/MR.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7q+
    Positive band
  • Dijkhuizen T, van Essen T, van der Vlies P, Verheij J B G M, Sikkema-Raddatz B, van der Veen A Y, Gerssen-Schoorl K B J, Buys C H C M, Kok K.: FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. AJMG Part A: 140A: 2482-2487, 2006. [PubMed: 17036314]
    46,XX,add(3)(p26;PAC 118b18-).
    The 20 year old had severe MR.
    WCP3 showed complete staining of both chromosome 3s. Hawever, since one chromosome 3 has a deletion of the subtelomeric signal PAC118b18, other chromosome 3 material must have replaced that sgement since the rearranged 3 is longer than the normal homolog. Prenatl karyotypes were normal.
    Chromosomal Aneuploidy: 3p-;3p+
    Index Terms: CNTN4, CRBN
  • Dolan C, Vigfusson N V, 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. 345.
    46,XX,t(3;9)(p26;q33)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Franchino C J, Beneck D, Greco M A, Wolman S R: Partial trisomy 6q: case report with necropsy findings. J. Med. Genet. 24:300-303, 1987. [PMC free article: PMC1050056] [PubMed: 3585945]
    46,XY,-3,+der(3)t(3;6)(3qter -> 3p26::6q23 -> 6qter)pat,inv(9)mat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6q+
    Positive band
  • Hoo J J, Koch M, Ziemsen B, Foerster W, Nishigaki I: Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14. Hum. Genet. 60:276-277, 1982. [PubMed: 7106760]
    46,XX,t(3;13)(p26;q21.2).
    Patient 2.
    46,XY,-3,+der(3)t(3;13)(p26;q212)mat.
    Aberration: Simple translocation
    Positive band
  • Hulten M A, Gould C P, Goldman A S H, Waters J J: Chromosome in situ suppression hybridisation in clinical cytogenetics. J. Med. Genet. 28:577-582, 1991. [PMC free article: PMC1015785] [PubMed: 1956055]
    Case 3.
    46,XY,-3,+der(3)t(3;8)(p26;p22).&"46,XY,-3,+der(3)t(3;8)(3qter -> 3p26::8p22 -> 8pter)."
    An institutionalised adult male with MR and slight facial dysmorphism.
    Chromosome painting was done.
    Aberration: Simple translocation
    Index Terms: Chromosome specific paints CSP
    Positive band
  • Ida T, Harada N, Abe K, Kondoh T, Yoshinaga M, Maki T, Niikawa N.: Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting. AJMG DOI=10.1002/ajmg.10257;108:182-186, 2002. [PubMed: 11891682]
    Case 4=46,XX,add(3)(p26).ish der(3)t(3;17)(p26;p11.2)(wcp17+,Tel17p+).,46,XX,der(3)(17pter->17p11.2::3p26->3qter).
    Patient 4 was one week old with MCA including heart defects.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3p-;17p+
  • Kitatani M, Takahashi H, Yasuda J, Chen C C, Ida F, Shike S: A case of ring chromosome 3, 46,XX,-3,+r(3)(p26q29). Jpn. J. Hum. Genet. 29:157-162, 1984. [PubMed: 6513151]
    Patient was 10 months old; parental karyotypes were normal.
    Aberration: Ring chromosome
    Positive band
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    mos46,XX,del(3)(p26)/46,XX,dup(3)(p26)de novo.
    Aberration: TD,DU
    Positive band
  • Kuhlmann R S, Werner A L, Abramowicz J, Warsof S L, Arrington J, Levy D L: Placental histology in fetuses between 18 and 23 weeks'' gestation with abnormal karyotype. Am. J. Obstet. Gynecol. 163:1264-1270, 1990. [PubMed: 2220940]
    46,XY,del(3),t(3;16)(p26;q23).
    Aberration: Simple translocation
    Positive band
  • Lurie I W, Lazjuk G I, Gurevich D B: Medico-genetical consulting of persons with pericentric inversions. Genetika 10:136-141, 1974.
    A family with inv(3)(p26q22) in three generations is described. The chance for the birth of malformed child is calculated -> be 10% for female carriers and 3% for male carriers.
    Aberration: Inversion pericentric
    Positive band
  • Pagano L, Fioretti G, Vetrella M, Risolo E, Casullo C, Celona A, Renda S, Rinaldi A, Ventruto V: "Hereditary 3;6 translocation: three cases of multiple malformations with partial trisomy 6p21 to pter." Ann. Genet. 23:173-175, 1980. [PubMed: 6968535]
    46,XX and XY,t(3;6)(p26;p21).&"46,XY,-3,+der(3)t(3;6)(3qter -> 3p26::6p21 -> 6pter)mat and pat."&There were four balanced carriers, 1 miscarriage, and three boys (1 stillbirth) with 6p trisomy.
    Aberration: Simple translocation
    Index Terms: Still born (premature)
    Positive band
  • Same entry as in 02q220,03p230 (Portnoi M F et al, 1988).
  • Stoll C, Halb A: "Partial trisomy 13 due to a maternal translocation 46,XX,t(3;13)(p26;q21)." Pediatrie 29:725-729, 1974. [PubMed: 4456285]
    46,XX,t(3;13)(p26;q21).&"46,XX,t(3;13)(3qter -> 3p26::13q21 -> 13qter;13pter -> 13q14::3p26 -> 3pter)."
    Subject B. Caroline (010572) in this report.
    46,XX,-3,+der(3)t(3;13)(p26;q21)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N: Parental chromosome translocations and fetal loss. Obst. Gynecol. 58:456-458, 1981. [PubMed: 7279340]
    This couple had 2 abortions.
    46,XX,inv(3)(p26q25).
    Aberration: Simple translocation
    Positive 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]
    46,XY,t(3;15)(p26;q22).
    Aberration: Reciprocal translocation
    Positive band
  • Wilson G N, Pooley J, Parker J: The phenotype of ring chromosome 3. J. Med. Genet. 19:471-473, 1982. [PMC free article: PMC1048968] [PubMed: 7154048]
    46,XY,r(3)(p26q29).
    Aberration: Ring chromosome
    Positive band
  • Wolff G, Back E, Arleth S, Rapp-Korner U: Genetic counseling in families with inherited balanced translocations: experience with 36 families. Clin. Genet. 35:404-416, 1989. [PubMed: 2736789]
    Case No. 17.
    46,XX and XY,t(1;16)(1p16p;1q16q),t(3;16)(p26;q12).
    Aberration: Simple translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106169
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