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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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01q210

1q21
  • Antonelli A, del Marco A, Gabellini P, Gigliani F, Marcucci L, Petrinelli P: "Translocation t(1;20)(q21;q13) in an azoospermic man." J. Med. Genet. 20:151, 1983. [PMC free article: PMC1049025] [PubMed: 6842554]
    46,XY,t(1;20)(q21;q13).
    Aberration: Simple translocation
    Index Terms: Azoospermia
    Negative band
  • 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. 17768 in this report.
    46,XY,t(1;13)(q2100;q3100).&"46,XY,t(1;13)(1pter -> 1q21::13q31 -> 13qter;13pter -> 13q31::1q21 -> 1qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Bache I, Van Assche E, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette M-F, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba H-C, Duprez L, Ferguson-Smith M, Fitzpatrick D R, Grace E, Hansmann I, Hulten M, Jensen P K A, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen C B, Vekemans M, Vokac N K, Wagner K, Wahlstroem J, Zelante L, Tommerup N. : An excess of chromosome 1 breakpoints in male infertility. Europ. J. Hum. Genet. 12:993-1000, 2004. [PubMed: 15367911]
    Data on 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) was compiled.
    The largest number of breakpoints was reported in 1q21. FISH mapping revealed that they did not involve the same region at the molecular level!
    Index Terms: Male infertility
  • Barneveld R A, Keijzer W, Tegelaers F P W, Ginns E I, Van Kessel A G, Brady R O, Barranger J A, Tager J M, Galjaard H, Westerveld A, Reuser A J J: Assisgnment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum. Genet. 64:227-231, 1983. [PubMed: 6885065]
    MIM#: 230800
    Negative band
  • Beemer F A, Klep-de-Pater J M, Sepers G J, Janssen B: Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 to q25) and del(1)(q41 to q43). Clin. Genet. 27:515-519, 1985. [PubMed: 4006278]
    Patient 1.
    46,XX,del(1)(pter -> q21::q25 -> qter). Mother''s karyotype: 47,XXX.
    Aberration: Interstitial deletion
    Negative band
  • Same entry as in 01p110,01p130 (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(1;2)(q21;p23); t(1;2)(q21;q37); t(1;3)(q21;q23); t(1;3)(q21;q29); t(1;5)(q21;q35).
    Aberration: Reciprocal translocation
    Negative band
  • Brown T, Robertson F W, Dawson B M, Hanlin S J, Page B M: Individual variation of centric heterochromatin in man. Hum. Genet. 55:367-373, 1980. [PubMed: 7203471]
    46,XY,der(1)der(2)t(1;2)(q21;p23)pat.
    Aberration: Simple translocation
    Negative band
  • Dasouki M, Barr M, Jr, Erickson R P, Cox B: "Translocation (1;22) in a child with bilateral oblique facial clefts." J. Med. Genet. 25:427-429, 1988. [PMC free article: PMC1050514] [PubMed: 3398011]
    46,XX,t(1;22)(q21;q12).
    Eight month old patient with symmetrical bilateral oblique facial clefts and calcaneovarus foot deformity, severe bilateral ocular hypoplasia.
    Aberration: Reciprocal translocation
    Negative band
  • den Hollander N S, Cohen-Overbeek T E, Heydanus R, Stewart P A, Brandenburg H, Los F L, Jahoda M G J, Wladimiroff J W: Cordocentesis for rapid karyotyping in fetuses with congenital anomalies or severe IUGR. Europ. J. Obstet. Gynecol. 53:183-187, 1994. [PubMed: 8200465]
    46,XX,t(1;16)(q21;q24).
    Aberration: Simple translocation
    Index Terms: Cordocentesis
    Negative band
  • Fernandez-Novoa M C, Vargas M T, Granell M R, Carreto P.: Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born. Prenat. Diag. 24:414-417, 2004. [PubMed: 15229838]
    46,X,der(Y)t(Y;1)(q12;q21)de novo.,Father=46,XY,fra(1)(q21) in 2/50 metaphases.
    Pregnancy continued after genetic counselling and newborn survived for few hours. Ultrasound examination had showed anomalies.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+
  • Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L.: FISH characterization of a supernumerary r(1)(::cen->q22::q22->sq21::) chromosome associated with multiple anomalies and bilateral cataracts. AJMG DOI=10.1002/ajmg.10019;104:157-164, 2001. [PubMed: 11746048]
    ''FISH study showed that the genomic content of r(1) consisted of a single copy region delimited by markers WI-7396 and WI-8386 (respectively anchored to YACs 809D7 and 882B3), and an inverted-duplicated region between markers WI-7732 and WI-6071, which were respectively anchored to YACs 780G12 and 955E11.'' This work ''restricts the mapping of the CZP1 locus to the 5 cM interval delimited approximately by D1S2696 and D1S2346''.
    mos47,XX,+r(1)(wcp1+)[35%]/46,XX.
    Aberration: Ring chromosome
    MIM#: 116200
    Chromosomal Aneuploidy: 1q+
    Index Terms: Cataracts bilateral,CAE1,CZP1
  • Friedrich U, Nielsen J: Autosomal reciprocal translocations in newborn children and their relatives. Humangenetik 21:133-144, 1974. [PubMed: 4135077]
    Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]
    Proband No. 8700 in this report.
    46,XY,t(1;17)(q21;q21).&"46,XY,t(1;17)(1pter -> 1q21::17q21 -> 17qter;17pter -> 17q21::1q21 -> 1qter)."&"46,XY,der(1)der(17)t(1;17)(q21;q21)pat."
    Aberration: Reciprocal translocation
    Negative band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case Ia-11 from R. Schmidt.
    mos46,XY/46,XY,t(1;22)(q21.9?no such sub-band in the ISCN 1995;q11.2)(41.7%).
    Normal liveborn male.
    Aberration: Reciprocal translocation
    Negative band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K3-135-61 in this report.
    46,XX,t(1;11)(q21;q13).
    M. R. C. Registry No. K91-135-65 in this report.
    46,XY,t(1;16)(q21;p13).
    Aberration: Simple translocation
    Negative band
  • Kadotani T, Watanabe Y, Kiyuna T, Kawamoto T, Katano T: A female infant with slight facial anomalies associated with XX and a small segment of the Y translocated on the long arm of chromosome No. 1. Proc. Jpn. Acad. (Ser. B) 56:616-620, 1980.
    This paper could be describing a case of 1qh+ variant instead of 46,XY,ins(1;Y)(q21;q11).
    Aberration: Marker chromosome
    Index Terms: Face ... anomalies
    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 No. 131.
    46,XY,t(1;16)(q21;q22)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Karasik J B, Garcia D M, Pritzker H, Marion R W: Deletion of 1q21 q24 in a patient with features of microcephalic osteodysplastic primordial dwarfism, type II (MOPD II). AJHG 51:A82, 1992.
    46,XX,del(1)(q21q25),t(7;18)(p15;q12.2).
    Patient was 11 years old with MOPD II.
    Aberration: Interstitial deletion
    MIM#: 210720
    Chromosomal Aneuploidy: 1q-
    Index Terms: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II)
    Negative band
  • Leichtman L G, Strum D, Brothman A R: Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1 (q21 to q25). AJMG 45:677-678, 1993. [PubMed: 8456844]
    Patient BGF.
    46,XX,del(1)(q21q25).
    Significant malformations included microbrachycepahly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Athyroidia,Microbrachycephaly
    Negative band
  • Mohandas T K, Kaback M M, 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. 1738.
    46,XY,inv(1)(q21q31)mat.
    Aberration: Inversion paracentric
    Negative band
  • Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]
    Case No. 9062 in this report.
    46,XY,t(1;17)(q21;q25).
    Aberration: Reciprocal translocation
    Negative band
  • Savasan S, Lorenzana A, Williams J A, Mohamed A N, Ravindranath Y, Zielenska M, Hamre M, Haas J E, Rector F, Sawaf H, Abella E.: Constitutional balanced translocations in alveolar rhabdomyosarcoma. Cancer Genet. Cytogenet. 105:50-54, 1998. [PubMed: 9689930]
    Case 2:
    46,XY,t(1;22)(q21;q11.2)de novo
    The patient was 5 years old with normal development and no dysmorphic features. He died 16 months after diagnosis.
    Aberration: Reciprocal translocation
    MIM#: 193500
    Index Terms: Rhabdomyosarcoma
  • Schinzel A A, Schmid W: Interstitial deletion of the long arm of chromosome 1, del(1)(q21 to q25) in a profoundly retarded 8-year-old girl with multiple anomalies. Clin. Genet. 18:305-313, 1980. [PubMed: 6934055]
    46,XX,del(1)(q21 -> q25).
    Parents chromosomes were normal.
    Aberration: Interstitial deletion
    Negative band
  • Same entry as in 01p340,01p360 (Warburton D, 1991).
  • 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,XX,t(1;2)(q21;p11.2).&"46,XX,t(1;3)(q21;q29)."&"46,XY,t(1;13)(q21;q12)."
    Aberration: Reciprocal translocation
    Negative band
  • 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. 64
    46,XX,t(1;7)(q21;p22)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID 7903237 and DD 9403917:
    46,XX,t(1;2)(q21;q37)mat.,46,XX,t(1;3)(q21;q25)pat.
    Cases ascertained during prenatal diagnosis.
    Lab ID DD9305895:
    46,XY,t(1;18)(q21;q11.2)mat.
    Case ascertained because of abnormal phenotype.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105895

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