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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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06q210

6q21
  • Same entry as in 0Xp22.13 (Waters et al, 2001).
  • Allderdice P W, Miller O J, Miller D A, Breg W R, Gendal E, Zelson C: Familial translocation involving chromosomes 6, 14, and 20 identified by quinacrine fluorescence. Humangenetik 13:205-209, 1971. [PubMed: 5114675]
    46,XX,t(6;14;20)(q21;q2;p1).,46,XX,t(6;14;20)(6pter->6q21::20p1->20pter?;,14pter->14q2::6q21->6qter;20qter->20p1::14q2->14qter).,47,XX,der(6)+der(14)t(6;14;20)(q21;q2;p1)mat.
    Aberration: Complex translocation
    Negative band
  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 20:
    t(6;14)(q21;q32)pat.,Fetal karyotype - 46,XX,t(6;14).
    Family ascertained because of a previous infant with an unbalanced karyotype.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band
  • Same entry as in 01q430,02p210,02q350,02q370 (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(6;13)(q21;q22); t(6;14)(q21;q31); t(6;17)(q21;q25).
    Aberration: Reciprocal translocation
    Negative band
  • Conn C M, Cozzi J, Harper J C, Winston R M L, Delhanty J D A.: Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parenatl translocation or mosaicism. J. Med. Genet. 36:45-50, 1999. [PMC free article: PMC1762940] [PubMed: 9950365]
    Couple 2:
    46,XX,t(6;21)(q13;q22.3).,Daughter=47,XX,der t(6;21)(q13;q22.3)mat,+21.
    The mother also had four early spontaneous abortions. The oocytes/embryos analyzed were unbalanced.
    Aberration: Reciprocal translocation
    Index Terms: PGD
  • Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    46,XX,t(6;18)(q21;q21)pat.
    Aberration: Simple translocation
    Index Terms: Metabolic disorders
    Negative band
  • Fauth C, Gribble S M, Porter K M, Codina-Pascual M, Ng B L, Kraus J, Uhrig S, Leifheit J, Haaf T, Fiegler H, Carter N P, Speicher M R.: Micro-array analyses decipher exceptional complex familial chromosomal rearrangement. Hum. Genet. 119:145-153, 2006. [PubMed: 16395598]
    Initial=46,XX,t(6;9;11;20)(q22;pter;p12;p12).,Mother and daughter=,46,XX,der(6)(6pter->6q21::11p13->11p13::20p12.3->20pter),der(9)(11pter->11p14.1::11p14.1->11p13::11p12->11p12::6q21->6q22.1::6q23.3->6q22.1::11p14.1->11p14.1::9p21.3->9qter),der(11)(9pter->9p21.3::6q21->6q21::11p12->11qter),der(20)(6qter->6q23.3::11p13->11p12::20p12.3->20qter).,Daughter and father have a deletion of 1q41.
    Both mother and daughter had the same complex chromosomal rearrangement. One of the rearrangements disrupted a locus, thus the persistent fetal hemoglobin levels in both of them.
    Aberration: Complex translocation
    Index Terms: Familial Complex chromosome rearrangement (CCR)
  • Felding I, Mitelman F: A child with partial trisomy 7 and 20 inherited from the mother. Hereditas 91:91-95, 1979. [PubMed: 500394]
    46,XX,t(6;7;20)(q21;q32;p11).,46,XX,t(6;7;20)(6pter->6q21::7q32->7qter::6q21->6qter::,20p11->20pter).,The one and half year old proband (000077) with various multiple congenital anomalies had inherited chromosome 6.,46,XY,der(6)t(6;7;20)(q21;q32;p11)mat.,The interpretation, as claimed by authors, of breakpoint assignments together with rejoining at terminal ends is of interest.
    Aberration: Complex translocation
    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,XY,t(6;11)(q21;q25).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Fryns J P, Van den Berghe H: Possible excess of mental handicap and congenital malformations in autosomal reciprocal translocations. Ann. Genet. 22:125-127, 1979. [PubMed: 316665]
    Family D. C. P. in this report.
    46,XY,t(6;20)(q21;p12).,46,XY,der(6)der(20),t(6;20)(q21;p12)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XY,t(6;8)(q21;q24).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Ito H, Yamasaki T, Okamoto O, Tahara E: Infantile hemangioendothelioma of the liver in patient with interstitial deletion of chromosome 6q: report of an autopsy case. AJMG 34:325-329, 1989. [PubMed: 2596522]
    46,XY,del(6)(q21q27).
    Patient died after 27 weeks. The clinical manifestations include developmental delay, feeding problems, and multiple anomalies including microcephaly, hypertelorism, apparently low-set abnormal ears, prominent nasal bridge, cubitus vlgus, overwrapping of fingers, cryptorchidism, and micropenis.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: Infantile hemangioendothelioma
    Negative band
  • Jacobs P A, Matsuura J S, Mayer M, Newlands I M: A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities. Clin. Genet. 13:37-60, 1978. [PubMed: 146575]
    46,XX,t(6;11)(q21;q25).,46,XX,t(6;11)(6pter->6q21::11q25->11qter;,11pter->11q25::6q21->6qter)mat.
    Patients A336 and A378 in this report.
    46,XX or XY,der(6)der(11),t(6;11)(q21;q25)mat.
    Aberration: Reciprocal translocation
    Negative band
  • King C R, 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. 701
    46,XY,t(6;18)(q21;q12).
    Aberration: Reciprocal translocation
    Negative band
  • Klein O D, Cotter P D, Moore M W, Zanko A, Gilats M, Epstein C J, Conte F, Rauen K A.: Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin. Genet. 71: 260-266, 2007. [PubMed: 17309649]
    Patient 1=46,XY,del(6)(q16.2q21).,Patient 2=46,XY,del(6)(q16.2q21).,Patient 3=46,XY,del(6)(q15q21).
    All three patients in this report had developmental delay, craniofacial dysmorphology, and functional eye disorders.
    In all 3, paternal alleles were deleted.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
  • Klinger H P, Aronson M M, Greene A E, Coriell L L: "A (6;18) translocation, 46 chromosomes. Repository identification No. GM-160." Cytogenet. Cell Genet. 15:402-403, 1975. [PubMed: 1225500]
    Klinger H P, Glasser M, Kava H W: Contraceptives and the conceptus. I. Chromosome abnormalities of the fetus and neonate related to maternal contraceptive history. Obst. Gynecol. 48:40-48, 1976. [PubMed: 934573]
    46,XX,t(6;18)(6pter->6q21::18p11->18pter;,6qter->6q21::18p11->18qter).,Both parents are karyotypically normal. The 11-week-old infant was phenotypically normal.
    46,XX,t(6;18)(q21;p11).
    Aberration: Reciprocal translocation
    Negative band
  • Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]
    Case 7:
    46,XY,der dup(6)(q21q22)mat
    Aberration: Duplication
    Chromosomal Aneuploidy: 6q+
  • Lykkelund C, Sondergaard F, Therkelsen A J, Tonnesen T, Rasmussen V, Mikkelsen M, Guttler F, Nyland M H: Feasibility of first trimester prenatal diagnosis of Hunter syndrome. Lancet ii:1147, 1983. [PubMed: 6138678]
    46,XY,t(6;8)(q21;q24).&"46,XX and XY,der(6)der(8)t(6;8)(q21;q24)pat."
    Aberration: Simple translocation
    Index Terms: Hunter syndrome
    Negative band
  • McManus S, de Arce M A: Cytogenetics of recurrent spontaneous aborters. Irish J. Med. Sci. 155:216-220, 1986. [PubMed: 3744746]
    46,XY,t(6;14)(q21;q24).
    Aberration: Simple translocation
    Negative band
  • Mennuti M T, Jingeleski S, Schwarz R H, Mellman W J: An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obst. Gynecol. 52:308-313, 1978. [PubMed: 360121]
    Case 8; A 37 year old husband of a woman with four spontaneous abortions.
    46,XY,t(6;11)(q21;q25).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Miyabara S, Toyoshima H, Suzumori K.: A fetal case of partial trisomy 6q(q21-qter) with renal dysplasia. Jpn. J. Hum. Genet. 31:93-99, 1986. [PubMed: 3820772]
    Several fetuses with cystic hygroma or loose skin of the neck were studied.
    Case 5:46,XY,der(7),t(6;7)(7qter->p22::6q21->6qer)mat.
    This was the 5th pregnancy of a 33 year old woman and it was terminated at 19 weeks. Renal dysplasia, coarctation of the aorta with persistent left superior vena cava, short and webbed neck were some of the anomalies.
    4th fetus also had a similar karyotype.
    Aberration: Simple translocation
    Index Terms: Cystic hygroma
    Negative band
  • Neu R L, Gallien J U, Steinberg-Warren N, Wynn R J, Bannerman R M: An infant with trisomy 6q21 to 6qter. Ann. Genet. 24:167-169, 1981. [PubMed: 6974528]
    Patient died shortly after birth.
    46,XX,t(6;10)(q21;q26).&"46,XX,-10,+der(10)t(6;10)(10pter -> 10q26::6q21 -> 6qter)mat."
    Aberration: Simple translocation
    Negative band
  • Neu R L, Miller 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 No. 648
    46,XY,t(6;8)(q21;q13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Ostrer H, Stamberg J, Perinchief P: Two chromosome aberrations in the child of a woman with systemic lupus erythematosus treated with azathioprine and prednisone. AJMG 17:627-632, 1984. [PubMed: 6711614]
    46,XY,del(7)(q21); t(6;14)(q21;q12).
    Aberration: Simple translocation
    MIM#: 152700
    Negative 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,XY,t(6;21)(q21;q24).
    Aberration: Reciprocal translocation
    Negative band
  • Pratt V M, Roberson J R, Weiss L, Van Dyke D L.: Duplication 6q21q23 in two unrelated patients. AJMG 80:112-114, 1998. [PubMed: 9805125]
    Patient 1:
    46,XY,dup(6)(q21q23.3)de novo
    These authors conclude ''duplication 6q21q23 syndrome is associated with developmental delay, congenital heart defects, depressed nasal bridge, and epicanthal folds''.
    Patient 2:
    46,XX,dup(6)(q21.15q23.3)de novo
    This patient was followed upto 7 years of age, weight and head circumference was at 5th centile.
    Aberration: Duplication
    Chromosomal Aneuploidy: 6q+
  • Robertson K P, Thurmon T F, Tracy M C: Acrocephalysyndactyly and partial trisomy 6. BD-OAS XI(No. 5):267-271, 1975.
    46,XX,t(6;10)(q21;q24).
    Case 310173 in this report.
    46,XX,-10,+der(10)t(6;10)(10pter -> 10q24::6q21 -> 6qter)mat.
    Aberration: Simple translocation
    Index Terms: Acrocephalosyndactyl(y)(ia)
    Negative band
  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
    Case 14, 85-9
    The fetal karyotype was carrier
    46,XX,t(6;11)(q21;p11).
    Aberration: Reciprocal translocation
    Negative band
  • Schonberg S, Golbus M S, 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. 704
    46,XX,t(6;21)(q21;q11)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Stamberg J, Shapiro J, Valle D L, Kuhajda F P, Thomas G H, Wissow L: "Partial trisomy 6q, due to balanced maternal translocation (6;22)(q21;p13) or (q21;pter)." Clin. Genet. 19:122-125, 1981. [PubMed: 7471508]
    46,XX,t(6;22)(q21;p13).&"46,XX,der(6)der(22)t(6;22)(q21;p13)mat."&"46XY,-22,+der(22)t(6;22)(q21;p13)mat."&The stillborn infant had multiple anomalies including occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis.
    Aberration: Simple translocation
    Index Terms: Anus ... imperforated,Encephalocele ... occipital,Genitalia ... ambiguous,Hydronephrosis,Omphalocele,Still born (premature)
    Negative band
  • Stetka D 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. 660
    46,XX,t(6;10)(q21;q26)mat.
    Observation No. 712
    46,XY,der(22),t(6;22)(q21;p13)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Tsukahara M, Yoneda J, Azuma R, Nakashima K, Kito N, Ouchi K, Kanehara Y.: Interstitial deletion of 6q21-q23 associated with split hand. AJMG 69:268-270, 1997. [PubMed: 9096755]
    46,XY,del(6)(pter->q21::q23->qter)de novo
    The infant died at 7 months of age. The infant had MCA, including CHD and right hand anomalies.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: Split hand
  • Vervoort V S, Viljoen D, Smart R, Suthers G, DuPont B R, Abbott A, Schwartz C E.: Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthlalmia, ectrodactyly, prognathism (MMEP) phenotype. J. Med. Genet. 39:893-899, 2002. [PMC free article: PMC1757218] [PubMed: 12471201]
    46,XX,t(6;13)(q21;q12)de novo.
    The breakpoint for chromosome 6 was between D6S1594 and D6S1250, and der(13)''s was close to SHCC-102422.
    Aberration: Reciprocal translocation
    Index Terms: SNX3,MMEP phenotype
  • Wertelecki W, Dumont 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. 644
    46,XX,t(6;7)(q21;q32)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Young R S, Fidone G S, Reider-Garcia P A, Hansen K L, McCombs J L, Moore C M: Deletions of the long arm of chromosome 6: Two new cases and review of the literature. AJMG 20:21-29, 1985. [PubMed: 3881954]
    Patient 2.
    46,XY,del(6)(q21q22.2).
    Aberration: Interstitial deletion
    Negative band
  • Zneimer S M, Ziel B, Bachman R.: Partial trisomy of chromosome 6q: an interstitial duplication of the long arm. AJMG 80:133-135, 1998. [PubMed: 9805129]
    46,XX,dup(6)(q21q23)de novo
    The 5 year old patient had delayed development and speech with distinctive minor facial anomalies including a ''carp'' mouth.
    Aberration: Duplication
    Chromosomal Aneuploidy: 6q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106279
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