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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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02q350

2q35
  • 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. 11187 in this report.
    46,XY,t(2;5)(q3500;q2300).&"46,XY,t(2;5)(2pter -> 2q35::5q23 -> 5qter;5pter -> 5q23::2q35 -> 2qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Baldwin C T, Hoth C F, Amos J A, da-Silva E O, Milunsky A: An exonic mutation in the HuP2 paired domain gene causes Waardenburg''s syndrome. Nature 355:637-638, 1992. [PubMed: 1347149]
    Ishikiriyama S: Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3. AJMG 46:608, 1993. [PubMed: 8322830]
    Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N: Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). AJMG 33:505-507, 1989. [PubMed: 2596512]
    Tassabehji M, Read A P, Newton V E, Harris R, Balling R, Gruss P, Strachan T: Waardenburg''s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636, 1992. [PubMed: 1347148]
    46,XY,inv(2)(q35q37.3).&Mother:46,XX,inv(9)(p11q12).
    The 20 month old patient has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukodermia.
    The mutation was present in 100% of the cases with the disease in this family and absent in 50 unrelated controls.
    Aberration: Inversion paracentric
    MIM#: 193500
    Index Terms: Waardenburg syndrome ... WS1
    Negative band
  • Bijlsma J B, de France H F, Bleeker-Wagemakers L M, Dijkstra P F: "Double translocation t(7;12),t(2;6) heterozygosity in one family." Hum. Genet. 40:135-147, 1978. [PubMed: 624544]
    Individual II-3 in the pedigree.
    46,XX,t(7;12)(p22;p11)t(2;6)(q35;q23).&"46,XX,t(7;12)(7qter -> 7p22::12p11 -> 12pter;12qter -> 12p11::7p22 -> 7pter); t(2;6)(2pter -> 2q35::6q23 -> 6qter;6pter -> 6q23::2q35 -> 2qter)."
    Individuals III-2 and IV-1 in the pedigree.
    46,XX and XY,der(2)der(6)der(7)der(12)t(7;12)t(2;6)mat and pat.
    Individuals III-4 and IV-2 in the pedigree.
    46,XX,der(7)der(12)t(7;12)(p22;p11)mat.
    Patient V.R., 010359, in this report.
    46,XY,-7,+der(7)t(7;12)(p22;p11)mat.&This 16 year old mentally retarded boy with partial trisomy 12p had high prominent forehead, flat face, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip and several skeletal abnormalities. Probably a first familial segregation of double translocations in a large family.
    Aberration: Reciprocal translocation
    Index Terms: Ears ... dysplastic,Face ... broad, round flat,Forehead ... prominent,Lips ... prominent lower
    Negative band
  • Bodmer D, Eleveld M J, Ligtenberg M J L, Weterman M A J, Janssen B A P, Smeets D F C M, de Wit P E J, van den Berg A, van den Berg E, koolen M I, van Kessel A G.: An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation. AJHG 62:1475-1483, 1998. [PMC free article: PMC1377167] [PubMed: 9585616]
    A three generation family with the translocation and RCC.
    I-2=46,XX,t(2;3)(q35;q21)de novo?,II-1 and II-7=46,XX and XY,der t(2;3)(q35;q21)mat, respectively.,III-6 and III-13=46,XY,der t(2;3)(q35;q21)mat and pat, respectively.
    Studies suggest that the translocation arose de novo in I-2.
    Aberration: Reciprocal translocation
    MIM#: 193300
    Index Terms: Renal cell cancer hereditary
  • Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, O"Brien P C M, Ferguson-Smith M A, Ropers H H, Tommerup N, Kalscheuer V M, Sargan D R.: A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J. Med. Genet. 39:391-399, 2002. [PMC free article: PMC1735133] [PubMed: 12070244]
    46,XY,der t(2;8)(q35;q21.2)del(q35)between 4.23 and 4.41 Mb.,Father=46,XY,t(5;20)(p10;p10).,Twin sister=46,XX,der t(5;20)pat.
    The child, 11 years old, has very mild dystopia canthorum, PAX haploinsufficiency, autism, and developmental difficulties.
    Aberration: RT,ID
    MIM#: 606597
    Chromosomal Aneuploidy: 2q-
    Index Terms: PAX3
  • 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(2;6)(q35;q21); t(2;6)(q35;q27).
    Aberration: Reciprocal translocation
    Negative band
  • Cannizzaro L A, Ladda R L, 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. 214.
    46,XX,t(2;7)(q35;p13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Cowchock S: Apparently balanced chromosome translocations and midline defects. AJMG 33:424, 1989. [PubMed: 2801781]
    Case 1
    46,XY,t(2;10)(q35;p13).
    The patient had a unilateral cleft lip without cleft palate and was karyotyped because of a history of repeated miscarriages.
    Aberration: Simple translocation
    Index Terms: Cleft lip,Cleft lip/palate
    Negative band
  • Crandall B, 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. 225
    46,XX,t(2;9)(q35;p13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Dahoun-Hadorn S, Bretton-Chappuis B: de novo inversion-duplication of 2q35-qter without growth retardation. Ann. Genet. 35:55-57, 1992. [PubMed: 1610122]
    Patient M.C.
    46,XY,inv dup(2)(q35 -> qter)de novo.
    Patient was 8 years old at the time of last followup.
    Aberration: Inverted insertions within a chromosome
    Chromosomal Aneuploidy: 2q+
    Negative band
  • Fritz B, Muller-Navia J, Hillig U, Kohler M, Aslan M, Rehder H.: Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization. AJMG 87:297-301, 1999. [PubMed: 10588833]
    46,XY,der(17)ins(17pter->17q25::2q35->2q37.1::17q25->17qter)de novo.
    The patient was 7 years old with growth retardation, developmental and mental delay, and minor physical abnormalities.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 2q+
  • Hamerton J L, Canning N, Ray M, Smith S: A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet. 8:223-243, 1975. [PubMed: 1183067]
    Case 9641 (060772) in this report.
    46,XX,t(2;10)(q35;q22)inv(9)(p11q13).
    Aberration: Simple translocation
    Negative band
  • Hsu L, 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. 216 and 217
    46,XX,t(2;7)(q35;q22)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Jenderny J: "Sperm chromosome analysis of two males heterozygous for a t(2;17)(q35;p13) and t(3;8)(p13;p21) reciprocal translocation." Hum. Genet. 90:171-173, 1992. [PubMed: 1427772]
    46,XY,t(2;17)(q35;p13).
    Ascertained after prenatal diagnosis.
    A significant excess of chromosomally normal versus balanced sperm complements was observed.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... chromosome analysis
    Negative band
  • Kirkpatrick S J, Kent C M, Laxova R, Sekhon G S: Waardenburg syndrome Type I in a child with deletion (2) (q35q36.2). AJMG 44:699-700, 1992. [PubMed: 1481835]
    46,XY,del(2)(q35q36.2)de novo.
    The 4 year old patient had the typical manifestations of WS1, facial, pigmentary and short stature.
    Aberration: Interstitial deletion
    MIM#: 193500
    Chromosomal Aneuploidy: 2q-
    Index Terms: Waardenburg syndrome ... WS1
    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]
    Cases 1 and 2:
    46,XX,dup(2)(q35q37)
    Aberration: Duplication
    Chromosomal Aneuploidy: 2q+
  • Magenis E, Olson 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. 187.
    46,XX,t(2;4)(q35;q27)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Melnyk A R, Muraskas J: Interstitial deletion of chromosome 2 region in a malformed infant. AJMG 45:49-51, 1993. [PubMed: 8418659]
    Nye J S, Balkin N, Lucas H, Knepper P A, McLeone D G, Charrow J.: Myelomeningocele and Waardenburg syndrome (Type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. AJMG 75:401-408, 1998. [PubMed: 9482647]
    Sanchez J M, Goldschmidt E L: Deletions of 2q: Is there a 2q- syndrome? AJMG 49:448-449, 1994. [PubMed: 8160741]
    Patient 1 in Nye et al.
    46,XY,del(2)(q35q36.2)de novo.ish der(2)(HuP2,PAX3-)pat
    When examined at age 4, he had blepharophimosis, telecanthus, synophrys, a blubous nose with hypoplastic alar cartilage, absent frontonasal angle, and a cupid''s bow upper lip with a short philtrum. The tetralogy of Fallot was repaired.
    Patient 2 in the 1998 report of Nye et al.
    46,XX,der(2)(q35.2q36.2)pat.ish del(2),(PAX 3, Phage222-).
    Patient had her meningomyelocele repaired at 2 days of age. At 5 months of age other anomalies and developmental delay was noted.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Waardenburg syndrome (Type 3),PAX3 gene
  • Richkind K E, 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. 215.
    46,XY,t(2;7)(q35;q11.2)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Riegel M, Baumer A, Suss J, Schinzel A.: An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal. AJMG DOI=10.1002/ajmg.a.30683; 135A:86-90, 2005. [PubMed: 15809996]
    46,XY,add(11)(q25).,Mother=46,XX,t(2;11)(2pter->2q36.2::11q24.3->11q25::2qter;11pter->11q24.3::11q25->11q25::2q36.2->2q37.3::11q25->11qter)(telomeres not exchanged) or 46,XX,t(2;11)(2pter->2q36.2::11q24.3->q25;11pter->11q24.3::11q25->11q25::2q36.2->2qter)(2q telomere on the rearranged 11, 11q telomere lost).
    Aberration: Reciprocal translocation
  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XX,t(2;3)(q35;p21).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Sanchez J M: Deletion 2q syndrome? AJMG 29:453-454, 1988. [PubMed: 3354619]
    Sanchez J M, Pantano A M: A case of deletion 2q35 to qter and a peculiar phenotype. J. Med. Genet. 21:147-149, 1984. [PMC free article: PMC1049247] [PubMed: 6716416]
    45,XX,del(2)(pter -> q35:)mat,rob(13q14q)mat.
    Aberration: Terminal deletion
    Negative band
  • Stevenson R E, Gibbes R W, Phelan M C, Wilkes G: Phenotypic-Karyotypic discordance: an indication for resolution at the level of the gene product or the gene. Proc. Greenwood Genet. Ctr. 4:51-54, 1985.
    Patient T. S.:47,XY,+der(21),t(2;21)(21pter to 21q22.1::2q35 to 2qter)mat.
    46,XX,t(2;21)(q35;q22.1).
    Aberration: Reciprocal translocation
    Negative 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,XX,t(2;9)(q35;q22.1).
    Aberration: Reciprocal translocation
    Negative band
  • Waters B L, Allen E F, Gibson P C, Johnston T: Autopsy findings in a severely affected infant with a 2q terminal deletion. AJMG 47:1099-1103, 1993. [PubMed: 8291531]
    46,XX,del(2)(q35 -> qter)de novo.
    Patient had MCA and died 13 days after birth.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106447
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