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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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06q150

6q15
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 15899 in this report.
    46,XY,t(6;13)(6pter->6q15::13q13->13qter;13pter->13q13::6q15->6qter).
    Aberration: Reciprocal translocation
    Negative 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]
    t(6;13)(q15;q13); t(6;21)(q15;q11).
    Aberration: Reciprocal translocation
    Negative band
  • Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]
    Family and Pedigree No. 7
    46,XX,t(6;14)(q15;q32),t(8;12)(q12;p12).
    6 month old female with failure to thrive.
    Aberration: Reciprocal translocation
    Negative band
  • Chaabouni H, Chaabouni M, Maazoul F, M''Rad R, Jemma L B, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F.: Prenatal diagnosis of chromosome disorders in Tunisian population. Ann. Genet. 44:99-104, 2001. [PubMed: 11522249]
    46,t(6;14)(q15;p12).
    Aberration: Simple translocation
    Index Terms: Tunisian
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Registry No. 0548 in this report.
    46,XX,t(6;8)(q15;q11).
    Aberration: Reciprocal translocation
    Negative band
  • Di Lernia V, Albertini G.: Cutaneous and joint laxity in chromosome 6q deletion. Pediat. Dermat. 11:281-282, 1994. [PubMed: 7971571]
    46,XX,del(6)(q15->q16.3).
    The infant had MCA including cutaneous and joint laxity.
    Aberration: Interstitial deletion
    MIM#: 147900
    Index Terms: Cutaneous & joint laxity
    Negative 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]
    46,XX,t(6;10)(q15;q22).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Glover G, Lopez I, Gabarron J, Carmona J A: Partial monosomy 6q (q15q21) by de novo interstitial deletion. Clin. Genet. 33:308-310, 1988. [PubMed: 3359687]
    46,XY,del(6)(q15q21).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Negative band
  • Horigome H, Takano T, Hirano T, Kajima T, Ohtani S I: Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve. AJMG 38:608-611, 1991. [PubMed: 2063905]
    46,XY,del(6)(q15q21)de novo.
    The newborn patient had some congenital anomalies.
    Patient died at 11 months of age after surgery.
    Aberration: Interstitial deletion
    MIM#: 187500
    Chromosomal Aneuploidy: 6q-
    Index Terms: Absent pulmonary valve
    Negative 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 1.
    t(6;15)(q15;q26.2).
    Patient diagnosed with Marfan syndrome.
    Chromosome painting was done.
    Aberration: Reciprocal translocation
    MIM#: 154700
    Index Terms: Marfan syndrome,Chromosome specific paints CSP
    Negative band
  • Kalousek D K, 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. 679 and 680
    46,XY,t(6;13)(q15;q14)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Le Caignec C, Swillen A, Van Asche E, Fryns J-P, Vermeesch J R.: Interstitial 6q deletion: clinical and array CGH characterisation of a new patient. Europ. J. Med. Genet. 48:339-345, 2005. [PubMed: 16179229]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
  • Lyberatou-Moraitou E, Grigori-Kostaraki P, Retzepopoulou Z, Kosmaidou-Aravidou Z: Cytogenetics of recurrent abortions. Clin. Genet. 23:294-297, 1983. [PubMed: 6851220]
    46,XY,t(6;7)(q15;p21).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Micic M D, Micic S R: Meiotic studies in two infertile males with autosomal translocations. Hum. Genet. 65:308-310, 1984. [PubMed: 6698552]
    46,XY,t(6;10)(q15;q22)pat.
    Aberration: Reciprocal translocation
    Index Terms: Sterility ... male
    Negative band
  • Midro A T, Stengel-Rutkowski S, Stene J: Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 41:113-122, 1992. [PubMed: 1563084]
    Family 7: Patient L.K.
    46,XX,t(6;18)(q15;p11)pat.
    Risk estimates for carriers detected among couples with reproductive failures are presented.
    Aberration: Reciprocal translocation
    Negative band
  • Nakagome Y, Tanaka T, Hashimoto T, Kuyama M, Maruyama M: Interstitial deletion 6q in a malformed boy. Ann. Genet. 23:49-51, 1980. [PubMed: 6965841]
    Patient S.O...(131178) with multiple congenital anomalies. Parents had normal karyotypes.
    46,XX,del(6)(q15q21).
    Aberration: Interstitial deletion
    Negative band
  • Prieto F, Badia L, Beneyto M, Palau F: Nucleolus organizer regions (NORs) inserted in 6q15. Hum. Genet. 81:289-290, 1989. [PubMed: 2921041]
    46,XX or XY,ins(6;?)(q14-15::?).
    Patient was dysmorphic but other carrier individuals were not.
    Aberration: Marker chromosome
    Index Terms: NOR
    Negative band
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,XX,t(6;13)(q15;q22)mat.
    Aberration: Simple translocation
    Negative 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(6;14)(q15;q32).
    Aberration: Reciprocal translocation
    Negative band
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    Parent and offspring, respectively:
    46,XX,t(6;7)(q15;q22); mos45,X/46,X,dic(Y).
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106439
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