- 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 translocationNegative 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 translocationNegative 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. 746,XX,t(6;14)(q15;q32),t(8;12)(q12;p12).6 month old female with failure to thrive.Aberration: Reciprocal translocationNegative 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 translocationIndex 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 translocationNegative 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 deletionMIM#: 147900Index Terms: Cutaneous & joint laxityNegative 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 translocationIndex 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 deletionChromosomal 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 deletionMIM#: 187500Chromosomal Aneuploidy: 6q-Index Terms: Absent pulmonary valveNegative 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 translocationMIM#: 154700Index Terms: Marfan syndrome,Chromosome specific paints CSPNegative 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 68046,XY,t(6;13)(q15;q14)pat.Aberration: Reciprocal translocationNegative 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 deletionChromosomal 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 translocationIndex 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 translocationIndex Terms: Sterility ... maleNegative 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 translocationNegative 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 deletionNegative 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 chromosomeIndex Terms: NORNegative 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 translocationNegative 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 translocationNegative 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 translocationNegative band
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 06q150.