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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- 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 translocationIndex 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 deletionNegative 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#: 180200Negative 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#: 268220Negative 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 paracentricNegative 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 deletionMIM#: 180200Chromosomal 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 translocationNegative 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#: 180200Index Terms: RetinoblastomaNegative 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 deletionChromosomal 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 deletionMIM#: 180200Chromosomal 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#: 180200Negative 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#: 180200Index Terms: RetinoblastomaNegative 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 translocationIndex Terms: Language deficitNegative 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 translocationIndex Terms: Ag-NOR regionsNegative 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#: 133280Negative 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 translocationNegative 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 deletionMIM#: 180200Chromosomal Aneuploidy: 13q-Index Terms: RetinoblastomaNegative 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: DuplicationNegative 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 translocationsNegative 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 translocationIndex 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 deletionIndex Terms: Cleft lip/palateNegative band
- Matsunaga E: Retinoblastoma: host resistance and 13q- chromosomal deletion. Hum. Genet. 56:53-58, 1980. [PubMed: 7203480]MIM#: 180200Index Terms: RetinoblastomaNegative 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 translocationNegative 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 chromosomeMIM#: 180200Chromosomal Aneuploidy: 13q+Index Terms: Retinoblastoma bilateral,Centromere latentNo 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#: 180200Index Terms: RetinoblastomaNegative 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 deletionMIM#: 180200Index Terms: RetinoblastomaNegative 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 terminatedAberration: Interstitial deletionChromosomal 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 deletionNegative 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 deletionMIM#: 180200Index Terms: RetinoblastomaNegative 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: RetinoblastomaNegative 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.MIM#: 180200,133280Index Terms: RetinoblastomaNegative 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 translocationIndex Terms: Cryptorchidism, (see also Testes, undescended),Dislocation ... hip,Hip(s) ... dislocation (coxa vara),Hypertelorism,Nystagmus,StrabismusNegative 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 translocationNegative 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 deletionMIM#: 180200Chromosomal 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 deletionMIM#: 180200,133280Index Terms: RetinoblastomaNegative 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 translocationIndex 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#: 180200Index Terms: RetinoblastomaNegative 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 deletionMIM#: 180200Index Terms: RetinoblastomaNegative band
- Vogel F: Genetics of retinoblastoma. Hum. Genet. 52:1-54, 1979. [PubMed: 393614]MIM#: 180200Index Terms: RetinoblastomaNegative 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 translocationNegative 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 deletionMIM#: 180200Index Terms: Dolichocephaly,Ears ... low-set,Hypertelorism,Retinoblastoma,Vertebra ... lumbar, abnormalitiesNegative band
- 13q140 - Chromosomal Variation in Man13q140 - Chromosomal Variation in Man
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