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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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13q140

13q14
  • Adzic S, Markovic S, Mijin K, Sulovic V, Lazarevic B: Chromosomes and fertility. Cytogenetic study of couples with habitual abortion. Rev. Fr. Gynecol. Obstet. 76:201-205, 1981.
    Adzic S, Mijin K, Sulovic V, Markovic S, Krstic M: Chromosomes and fertility. Translocation 13:15 and 13:18 and spontaneous abortion. Yugoslav. Ginek. Opstet. 21:23-25, 1981. [PubMed: 7052393]
    46,XX,t(13;18)(q34;q11).,46,XX and XY,der(13)der(18)t(13;18)(q24;q11).,46,XX,del(13)(pter->q14:).
    Couple No. 4.
    46,XX,t(13;15)(q14;q26).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Aronson M M, Zackai E H, Mellman W J, Miller R C, Greene A E, Coriell L L: A (13) terminal deletion, 46 chromosomes. Repository Identification No. GM-250. Cytogenet. Cell Genet. 15:57-58, 1975. [PubMed: 1183234]
    Aberration: Terminal deletion
    Negative band
  • Bandara L R, Adamczewski J P, Hunt T, La Thangue N B: Cyclin A and the retinoblastoma gene product complex with a common transcription factor. Nature 352:249-251, 1991. [PubMed: 1830372]
    MIM#: 180200
    Negative band
  • Barr F G, Sellinger B, Emanuel B S: "Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13." Genomics 11:941-947, 1991. [PubMed: 1783402]
    MIM#: 268220
    Negative band
  • Bateman B G, Neu R L, Nunley W C, Jr, Kelly T E: Pregnancy wastage associated with paracentric inversion of chromosome 13. J. Med. Genet. 23:370, 1986. [PMC free article: PMC1049711] [PubMed: 3746843]
    35 year old whose wife had three miscarriages.
    46,XY,inv(13)(q14q22).
    Aberration: Inversion paracentric
    Negative band
  • Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F.: Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin. genet. 55:478-482, 1999. [PubMed: 10450867]
    16 had de novo interstitial deletions.,Four interstitial deletions were due to parental insertions.,2 de novo translocations, 2;13 and X;13, with interruption or functional inactivation of the RBI gene.
    Dysmorphic abnormalities were anteverted ear lobes (90%), a high and broad forehead (85%), and a prominent philtrum (65%).
    Aberration: Interstitial deletion
    MIM#: 180200
    Chromosomal Aneuploidy: 13q-
    Index Terms: Retinoblastoma
  • Same entry as in 03q210,05q130,06q240,07p150,07p220,09q340,13p120 (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(13;15)(q14;q26); t(13;17)(q14;q23).
    Aberration: Reciprocal translocation
    Negative band
  • Camargo M, Johnson M P, Cervenka J: Delineation of 13q- deletion by replication banding in retinoblastoma. Cytogenet. Cell Genet. 31:77-83, 1981. [PubMed: 7307584]
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Conradie J M: ''n Geval van chromosoom-13-afwyking. S. Afr. Med. J. 76:701-702, 1989. [PubMed: 2595512]
    mos46,XY,del(13)(pter -> q14)(45%)/46,XY(55%).
    Patient had skull tumor, dysmorphic signs and mental retardation.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 13q-
    Negative band
  • Cowell J K, Rutland P, Hungerford J, Jay M: Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma. Hum. Genet. 80:43-45, 1988. [PubMed: 2901396]
    Patient RB 6102.
    46,XY,del(13)(q14)mat.
    Patient presented with an advanced tumor at age 3 1/2 years in the left eye.
    Mother showed intermediate ESD levels but no evidence of rb.
    Aberration: Interstitial deletion
    MIM#: 180200
    Chromosomal Aneuploidy: 13q-
    Negative band
  • Defeo-Jones D, Huang P S, Jones R E, Haskell K M, Vuocolo G A, Hanobik M G, Huber H E, Oliff A: Cloning of cDNAs for cellular proteins that bind to the retinoblastoma gene product. Nature 352:251-254, 1991. [PubMed: 1857421]
    MIM#: 180200
    Negative band
  • Dryja T P, Cavenee W K, White R, Rapaport J M, Petersen R, Albert D M, Bruns G: Homozygosity of chromosome 13 in retinoblastoma. NEJM 310:550-553, 1984. [PubMed: 6694706]
    Dryja T P, Rapaport J M, Joyce J M, Petersen R A: Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. PNAS 83:7391-7394, 1986. [PMC free article: PMC386723] [PubMed: 2876425]
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Friedrich U, Dalby M, Staehelin-Jensen T, Bruun-Peterssen G: Chromosomal studies of children with developmental language retardation. Develop. Med. Child Neurol. 24:645-652, 1982. [PubMed: 7141121]
    Case No. 6.
    46,XX,-15,+der(13)t(13;15)(13pter -> 13q14::15q13 -> 15qter)mat.
    Aberration: Simple translocation
    Index Terms: Language deficit
    Negative band
  • Gonzalez G J R, Rolon A, Rivera H: Ag-positive regions on unusual chromosome locations. Ann. Genet. 36:221-223, 1993. [PubMed: 8166429]
    46,XX,t(13;21)(q14;p11).
    The 28 year old was karyotyped because of multiple miscarriages.
    Both derivative chromosomes were Ag-NOR negative at the breakpoints, instead they were seen in telomeric or interstitial locations.
    Aberration: Reciprocal translocation
    Index Terms: Ag-NOR regions
    Negative 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]
    MIM#: 133280
    Negative band
  • Jackson L 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 Nos. 992, 994 and 995.
    46,XX & XY,t(13;15)(q14;q26)mat.
    Observation No. 993.
    46,XY,-15,+der(15),t(13;15)(q14;q26)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Knudson A G, Meadows A T, Nichols W W, Hill R: Chromosomal deletion and retinoblastoma. NEJM 295:1120-1123, 1976. [PubMed: 980006]
    46,XX,del(13)(q14q22).,46,XX,del(13)(pter->q14::q22->qter).,It is suggested that deletion of a segment on 13q predisposes the individual to retinoblastoma.
    Aberration: Interstitial deletion
    MIM#: 180200
    Chromosomal Aneuploidy: 13q-
    Index Terms: Retinoblastoma
    Negative band
  • Koske-Westphal T, Pruszak-Seel R E, Niss E, Passarge E: Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over. Ann. Hum. Genet. 41:315-322, 1978. [PubMed: 626476]
    Patient 2, (Ha We 120572/630232) in this report.
    Died at 8 1/2 months of age. Karyotypes of parents were normal.&46,XY,dup(13)(q14 -> qter).
    Aberration: Duplication
    Negative band
  • Same entry as in 03q290,13p110 (Kreiger et al, 1974).
  • Lambert J C, Galiana A, Donzeau M, Ferrari J, Ayraud N: Partial trisomy 13(13q14 to 13qter) in mosaic. J. Genet. Hum. 26:161-171, 1978. [PubMed: 670943]
    Patient 020270 in this report was 6 1/2 years old.
    mos 46,XY/46,XY,-15,+(13;15)(q14;pter).&"mos 46,XY/46,XY,-15,+t(13;15)(15qter -> 15pter::13q14 -> 13qter)."
    Aberration: Robertsonian translocations
    Negative band
  • Lazjuk G I, Lurie I W, Gurevich D B: Genetics of Patau syndrome (Analysis of 59 cases). Cytology & Genetics 6:453-454, 1984. [PubMed: 6523569]
    46,XY,t(13;18)(q14;q23).
    Aberration: Simple translocation
    Index Terms: Patau syndrome (trisomy 13)
    Negative band
  • Loevy H T, Jayaram B N, Rosenthal I M, Pildes R: Partial trisomy 13 associated with cleft lip and cleft palate. Cleft Palate J. 14:239-243, 1977. [PubMed: 267526]
    47,XX,+del(13)(pter -> q14:).
    Aberration: Terminal deletion
    Index Terms: Cleft lip/palate
    Negative band
  • Matsunaga E: Retinoblastoma: host resistance and 13q- chromosomal deletion. Hum. Genet. 56:53-58, 1980. [PubMed: 7203480]
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • McCorquodale 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. 1010.
    46,XY,t(13;20)(q14;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Morrissette J J D, Celle L, Owens N L, Shields C L, Zackai E H, Spinner N B.: Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. AJMG 99:21-28, 2001. [PubMed: 11170089]
    47,XY,r(13)(pter->q14),+der(13)(qter->q14::q14->[neocentromere]->qter).ish r(13)(RB1+),der(13)(RB1-).ish r(13)(q32q33-),der(13)(q32q33+/+).
    The 17 month old boy has developmental delay.
    Aberration: Ring chromosome
    MIM#: 180200
    Chromosomal Aneuploidy: 13q+
    Index Terms: Retinoblastoma bilateral,Centromere latent
    No band
  • Morten J E N, Harnden D G, Bundey S: Family studies on the chromosomal location of the retinoblastoma gene (Rb-1). J. Med. Genet. 19:120-124, 1982. [PMC free article: PMC1048841] [PubMed: 6951997]
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Motegi T, Minoda K: A decreasing tendency for cytogenetic abnormality in peripheral lymphocytes of retinoblastoma patients with 13q14 deletion mosaicism. Hum. Genet. 66:186-189, 1984. [PubMed: 6714979]
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Muller-Navia J, Nebel A, Oehler D, Theile U, Zabel B, Schleiermacher E.: Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities. Prenat. Diag. 16:915-922, 1996. [PubMed: 8938060]
    Case 2:
    46,XX,del(13)(q14q22)de novo.
    The pregnancy of this 37 year old woman was terminated
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 13q-
    Negative band
  • Same entry as in 04q250,06p210 (Nielsen et al, 1976).
  • Nishikawa A, Mitomori T, Matsuura A, Inoue A, Mori H, Takahashi M: A 13q- syndrome with extensive intestinal atresia. Acta Paed. Scand. 74:305-308, 1985. [PubMed: 3993382]
    Patient died after 70 days, had multiple anomalies, and autopsy findings are included.
    46,XX,del(13)(pter -> q14:).
    Aberration: Terminal deletion
    Negative band
  • Orye E, Benoit Y, Coppietery R, Jeannin Ph, Vercruysse C, Delaey J, Delbeke M J: A case of retinoblastoma, associated with histiocytosis-X and mosaicism of a deleted D-group chromosome (13q14 to q31). Clin. Genet. 22:37-39, 1982. [PubMed: 6983401]
    Orye E, Delbeke M J, Vandenabeele B: Retinoblastoma and long arm deletion of chromosome 13. Attempts to define the deleted segment. Clin. Genet. 5:457-464, 1974. [PubMed: 4854145]
    46,XX,del(13)(q14q22).&46,XX,del(13)(pter -> q14::q22 -> qter).
    mos46,XX/46,XX,del(13)(q14 -> q22).
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Palmer R W, Hulten M A: Chiasma derived genetic maps and recombination fractions: chromosome 13 with reference to the proposed 13q14 retinoblastoma locus. J. Med. Genet. 19:125-129, 1982. [PMC free article: PMC1048842] [PubMed: 6951998]
    Index Terms: Retinoblastoma
    Negative band
  • Rivera H, Turleau C, de Grouchy J, Junien C, Despoisse S, Zucker J M: Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D. Hum. Genet. 59:211-214, 1981. [PubMed: 7327583]
    Case 1. (Obs. No. 11093).
    46,XY, del(13)(q1307q143).
    Case 2. (Obs. No. 11122).
    46,XX,del(13)(q1303q143).&Parents'' karotypes were normal.
    Mother.
    46,XX,ins(20;13)(p12;q1307q143).
    Sister.
    46,XX,-20,+der(20)ins(20;13)mat.
    Index Terms: Retinoblastoma
    Negative band
  • Schinzel A A, Aronson M M, Greene A E, Coriell L L: "Partial trisomy 13,47,XY, resulting from a maternally inherited translocation, t(13;17). Repository identification No. GM-1555." Cytogenet. Cell Genet. 23:147, 1979. [PubMed: 761480]
    Schinzel A A, Aronson M M, Greene A E, Coriell L L: Partial trisomy for the distal long arm of chromosome 13,46,XY. Repository identification No. GM-1663. Cytogenet. Cell Genet. 23:148, 1979. [PubMed: 761481]
    Schinzel A A, Schmid W, Murset G: Different forms of incomplete trisomy 13, mosaicism and partial trisomy for the proximal and distal long arm. Report of three cases. Humangenetik 22:287-298, 1974. [PubMed: 4139096]
    Case 2 in this report.
    46,XY,-17,+der(17)t(13;17)(q14;p13)mat.
    The 14 year old white male had multiple congenital abnormalities including hexadactyly, hypertelorism, and cryptorchidism, as well as retarded growth and psychomotor development. The 13 year old white male had numerous congenital abnormalities including minor dysmorphic traits, cryptorchidism, bilateral nystagmus, convergent strabismus, dislocation of the hips, and mental retardation.
    Case 3 in this report.
    47,XY,+der(13)t(13;17)(q14;p13)mat.
    Mother of Cases 2 and 3 in this report.
    46,XX,t(13;17)(q14;p13).&"46,XX,t(13;17)(13pter -> 13q14::17p13 -> 17pter;17qter -> 17p13::13q14 -> 13qter)."
    Aberration: Reciprocal translocation
    Index Terms: Cryptorchidism, (see also Testes, undescended),Dislocation ... hip,Hip(s) ... dislocation (coxa vara),Hypertelorism,Nystagmus,Strabismus
    Negative band
  • Schwanitz G, Grosse K P, Semmelmayer U, Mangold H: "Partial trisomy 13 in a family with balanced translocation (13q-;16q+)." Mschr. Kinderheil. 122:337-342, 1974. [PubMed: 4849346]
    46,XX,t(13;16)(q14;q24).&"46,XX,t(13;16)(13pter -> 13q14::16q24 t0 16qter;16pter -> 16q24::13q14 -> 13qter)."&"46,XX,der(13)der(16)t(13;16)(q14;q24)mat."
    Patient E.T. (200172) in this report.
    47,XX,+der(13)t(13;16)(q14;q24)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Skrypnyk C, Bartsch O.: Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14. AJMG 124A:397-401, 2004. [PubMed: 14735589]
    46,XY.ish(RB1-).
    The patient was 10 years old .
    Aberration: Interstitial deletion
    MIM#: 180200
    Chromosomal Aneuploidy: 13q-
    Index Terms: RB1
  • Sparkes R S, Murphree A L, Lingua R W, Sparkes M C, Field L L, Funderburk S J, Benedict W F: Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to Esterase D. Science 219:971-973, 1983. [PubMed: 6823558]
    Sparkes R S, Sparkes M C, Wilson M G, Towner J W, Benedict W F, Murphree A L, Yunis J J: Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 208:1042-1044, 1980. [PubMed: 7375916]
    Family 1 in this report.
    46,XX,inv(13)(q12q22).&46,XX,del(13)(q14 -> q22).
    Family 2 in this report. Parents had normal karyotypes.
    46,XX,del(13)(q14 -> q22).
    Family 3 in this report. Parents had normal karyotypes. Earlier reported by Wilson et al, (1977), cited under 13q120.
    46,XY,del(13)(q12 -> q14).
    Family 4 in this report. Parents had normal karyotypes. Earlier reported by Yunis and Ramsay (1978), cited under 13q141.
    46,XX,del(13)(q14).
    Family 5 in this report. Earlier reported by Moedjono and Sparkes (1979), cited under 13q120.
    46,XX,t(13;22)(q12;q13).&47,XY,+13(pter -> q12).
    Aberration: Interstitial deletion
    Index Terms: Retinoblastoma
    Negative band
  • Stoll C, Levy J M, Dorr R, Kapps R: "Translocation t(13;17)(q14;q22) familiale diagnostiquee apres la naissance d''un enfant trisomique 21." J. Genet. Hum. 23:327-334, 1975. [PubMed: 1214144]
    46,XY,t(13;17)(q14;q22).&"46,XX and XY,der(13)der(17)t(13;17)(q14;q22)pat."
    Case Veronique (120671) in this report.
    47,XX,+21.&The familial translocation was found in the father of the Down syndrome child.
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Takabayashi T, Lin M S, Wilson M G: Sister chromatid exchanges and chromosome aberrations in fibroblasts from patients with retinoblastoma. Hum. Genet. 63:317-319, 1983. [PubMed: 6862435]
    The fibroblasts with del(13)(q12q22) showed slightly increased SCE.
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Turleau C, de Grouchy J: Constitutional karyotypes in retinoblastoma. Ophthal. Paediat. Genet. 8:11-17, 1987. [PubMed: 3295639]
    Ten rearrangements involving 13q14 were found in a series of 105 patients.
    Case 1:ins(20;13)(p12;q13.07q14.3)mat.&Case 2:del(13)(q13.03q14.3)de novo.&"Cases 3 & 4:ins(16;13)(q12.2;q13q21.1)familial."&"Case 5:ins(5;13)(p11;q14.1q14.2)."&Case 7:del(13)(q14.1q14.3)de novo.&Case 8:del(13)(q14.1q21.2)de novo.&Case 9:del(13)(q14.1q14.3)de novo.&Case 10:del(13)(q12.3q14.3)/?mos.
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Vogel F: Genetics of retinoblastoma. Hum. Genet. 52:1-54, 1979. [PubMed: 393614]
    MIM#: 180200
    Index Terms: Retinoblastoma
    Negative band
  • Woolf W W, Bradshaw C L, Hoyme H E, Jones K L, Jones O W: Adjacent 2 translocation involving 13q and 21q. J. Med. Genet. 19:314-315, 1982. [PMC free article: PMC1048906] [PubMed: 7120325]
    46,XX,t(13;21)(q14;q11).&"46,XX,-21,+der(13)t(13;21)(q14;q11)mat."
    Patient died after 5 days due to multiple congenital anomalies.
    Aberration: Simple translocation
    Negative band
  • Yunis E, Zuniga R, Ramirez E: Retinoblastoma gross internal malformations, and deletion 13q14 to q31. Hum. Genet. 56:283-286, 1981. [PubMed: 7239512]
    46,XY,del(13)(q14q31).&Anomalies in the 4 month old patient include left retinoblastoma, doliocephalic skull, wide nasal root, hypertelorism, down set ears, abnormalities in some of the lumbar vertebra.
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Dolichocephaly,Ears ... low-set,Hypertelorism,Retinoblastoma,Vertebra ... lumbar, abnormalities
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106864
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