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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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02p250

2p25
  • Alkuraya F S, Kimonis V E, Holt L, Murata-Collins J L.: A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: further support for ''ring chromosome 2 syndrome". AJMG DOI=10.1002/ajmg.a.30437; 132A:447-449, 2004 and 2005. [PubMed: 15580637]
    Fibroblasts=46,XY,r(2)(p25q37)[13]/45,XY,-2[4]/47,XY,r(2)(p25q37)x2[2]/46,XY,dic r(2;2)(p25q37;p25q37)[1].ish r(2)(wcp2+,2psubtel+2qsubtel2q-).
    Pregnancy was complicated by severe oligohydramnios. A newborn with facial dysmorphism and MCA is described.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 2q-
    Index Terms: Ring (2) chromosome syndrome
  • Beemer F A, van der Heiden C, van Hemel J O, Jansen M: Letter to the Editors. Clin. Genet. 24:151, 1983.
    Jansen M, Beemer F A, van der Heiden C, van Hemel J O, van den Brande J L: Ring chromosome 2: Clinical, chromosomal, and biochemical aspects. Hum. Genet. 60:91-95, 1982. [PubMed: 7076252]
    Patient was 4 years old with a severe pre- and postnatal growth failure, microcephaly, psychomotor retardation, and some minor dysmorphic features.
    46,XX,r(2)(p25q37).
    Aberration: Ring chromosome
    Index Terms: Microcephaly
    Negative band
  • Bernheim A, Berger R, Thieffry J C, Matet Y: Partial trisomy 6p. Hum. Genet. 48:13-16, 1979. [PubMed: 110670]
    Junien C, Kaplan J C, Bernheim A, Berger R: Regional assignment of red cell acid phosphatase locus to band 2p25. Hum. Genet. 48:17-21, 1979. [PubMed: 457131]
    46,XX,t(2;6)(p25;p21).&"46,XX,der(2)t(2;6)(p25;p21)mat."&"46,XX,der(2)t(2;6)(2qter -> 2p25::6p21 -> 6pter)."
    Case SD, 200977 in this report.
    The main features of the 6p trisomy syndrome, based on 8 cases, appear to be psychomotor retardation, hypotrophy, low birth weight, high, prominent forehead, close-set eyes, blepharophimosis, blepharoptosis, nystagmus, high nasal bridge, small mouth, low-set ears, sacral dimple, congenital heart malformation, proteinuria, and small kidneys.
    Aberration: Simple translocation
    MIM#: 171500
    Index Terms: Blepharophimosis,Congenital heart defects (cardiovascular anomalies),Ears ... low-set,Forehead ... prominent,Kidney ... malformations,Mouth ... small,Nystagmus
    Negative band
  • Biederman B, Bowen P, Aronson M M, Greene A E, Coriell L L: "A (2;4) translocation, balanced, 46 chromosomes. Repository identification No. GM-1064." Cytogenet. Cell Genet. 17:300-301, 1976,1977. [PubMed: 1017323]
    46,XY,t(2;4)(p25;q21).&"46,XY,t(2;4)(2qter -> 2p25::4q21 -> 4qter;4pter -> 4q21::2p25 -> 2pter)."
    Proband M. L. in this report was five years old at the time of study.
    46,XY,-2,+der(2)t(2;4)(p25;q21)pat.&Clinical features in the present case and 12 other cases of partial trisomy 4q were reviewed. The most consistent features are: growth and mental retardation, small head with narrow forehead, short philtrum, relatively large ears with incomplete differentiation of the pinnae, cryptorchidism, oedema of the hands and/or feet and renal anomalies. Abnormal development of the thumb in 4/13 cases. 11/13 cases had balanced translocation carriers.
    Aberration: Reciprocal translocation
    Index Terms: Cryptorchidism, (see also Testes, undescended),Ears ... large,Forehead ... narrow,Hand ... anomalies,Head ... small deformities,Philtrum ... short
    Negative band
  • 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;4)(p25;q31); t(2;6)(p25;p21); t(2;10)(p25;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Bourrouillou G, Colombies P, Blanc P, Grozdea J, Pontonnier F: Anomalies chromosomiques chez les hommes steriles. Etude chez 241 sujets. La Nouv. Presse Med. 7:3777, 1978. [PubMed: 733534]
    46,XY,t(2;7)(p25;p13).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    Negative band
  • Chewings W E, Cocks T P, Gardner R J M, Clarkson J E: A malformed baby with two separate de novo translocations. J. Med. Genet. 19:70-71, 1982. [PMC free article: PMC1048823] [PubMed: 7069750]
    46,XX,t(2;4)(p25;q21),t(10;18)(p15;q12.2).
    Aberration: Double translocation
    Negative band
  • Chiyo H A, Kuroki Y, Matsui I, Niitsu N, Nakagome Y: A case of partial trisomy 3q. J. Med. Genet. 13:525-528, 1976. [PMC free article: PMC1013486] [PubMed: 1018313]
    Individual IV-12 in the pedigree.
    46,XX,der(2)der(3)rcp(2;3)(p25;q21)mat.
    Individuals III-6 and III-12 in the pedigree.
    46,XX,rcp(2;3)(p25;q21).&"46,XX,rcp(2;3)(2qter -> 2p25::3q21 -> 3qter;2pter -> 2p25::3q21 -> 3pter)."
    Proband (IV-13) in the pedigree.
    46,XX,-2,+der(2)rcp(2;3)(p25;q21)mat.&The clinical features were square-shaped face, hypertelorism, small malformed ears, prominent nasal bridge, cleft palate, micrognathia, short webbed neck, wide-set nipples, camptodactyly, clinodactyly of the 5th fingers, hypoplastic nails and hypoplastic dermal ridge. Patient died at 32 days of age and necropsy showed hypoplastic cerebellum, cystic dilatation of 4th ventricles, renal cortical cyst, bicornuated uterus and double vagina.
    Aberration: Reciprocal translocation
    Index Terms: Camptodactyly,Cleft lip/palate,Clinodactyly,Ears ... small malformed,Face ... square-shaped,Hypertelorism,Micrognathia,Nails ... hypoplasia,Neck ... short webbed,Uterus ... bicornis,Vagina ... double
    Negative band
  • Cote G B, Katsantoni A, Deligeorgis D, Sarri C, Pandelia E: The cytogenetic and clinical implications of a ring chromosome 2. Hum. Genet. 24:231-235, 1981. [PubMed: 6977305]
    Patient was 18 months old with multiple anomalies. Both parents had normal karyotypes.
    46,XX,r(2)(p25q37).
    Aberration: Ring chromosome
    Negative band
  • Czako M, Riegel M, Morava E, Bajnoczky K, Kosztolanyi G.: Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. AJMG DOI=10.1002/ajmg.a.30249; 131A:310-312, 2004. [PubMed: 15540175]
    Father=46,XY,t(2;17)(p25;q24).,Patient=46,XY,der(2)t(2;17)(p25;q24)pat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p-
    Index Terms: Opitz "C" trigonocephaly-like syndrome
  • 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(2;7)(p25;p13).
    Aberration: Simple translocation
    Index Terms: Metabolic disorders
    Negative band
  • Dee S L, Clark A T, Willatt L R, Yates J R W.: A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH. J. Med. Genet. 38:e2, 2001. [PMC free article: PMC1734942] [PubMed: 11546833]
    46,XX,r(2)(p25q37)de novo
    The patient was followed upto 10 months of age, with a developmental age of 5 months.
    Aberration: Ring chromosome
  • Djalali M, Steinbach P, Bullerdiek J, Holmes-Siedle M, Verschraegen-Spae M R, Smith A: The significance of pericentric inversions of chromosome 2. Hum. Genet. 72:32-36, 1986. [PubMed: 3943862]
    Case 2:
    46,XX,inv(2)(p25q11).
    Case 3:
    46,XX,inv(2)(p25q22).
    Aberration: Inversion pericentric
    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(2;7)(p25;q11).,46,XX,-2,+der(2)t(2;7)(2qter->2p25::7q11->7qter)mat.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Gimelli G, Cuoco C, Lituania M, Cordone M, Arico M, Bianchi E, Maraschio P, Zuffardi O: Dup(3)(p2 to pter) in two families, including one infant with cyclopia. AJMG 20:341-348, 1985. [PubMed: 3919583]
    46,XX,-2,+der(2),t(2;3)(2qter->2p25::3p23->3pter)mat.,The family was ascertained due to suspected polyhydramnios and work up during the 33rd week of pregnancy.
    Family 2.
    46,XX or XY,t(2;3)(p25;p23).
    Aberration: Simple translocation
    Index Terms: Cyclop(ia)(s),Polyhydramnios
    Negative band
  • Horsley S W, Knight S J L, Nixon J, Huson S, Fitchett M, Boone R A, Hilton-Jones D, Flint J, Kearney L. : Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. J. Med. Genet. 35:722-726, 1998. [PMC free article: PMC1051423] [PubMed: 9733029]
    46,XX,der(18)t(2;18)(p25;p11.2)
    The proband was 37 years old, with a history of increasing stiffness of her neck, weakness of her hand grip, and weakness of shoulder elevation with prominent shoulder blades.
    The patient is trisomic for 2p25-pter and monosomic for 18p11.2-pter. Reverse chromosome painting with degenerate oligonucleotide primer-polymerase chain reaction (DOP-PCR) amplified del(18p) chromosomes as a probe confirmed the abnormality.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+;18p-
    Index Terms: Translocations cryptc
  • Kung Ihnat D H, McIlvain-Simpson G, Conrad K, Scott C I, Singsen B H: Inflammatory arthropathies in children with chromosomal abnormalities. J. Rheumat. 20:742-746, 1993. [PubMed: 8496877]
    46,XY,-2,+der(2)t(2;5)(p25;q33)mat.,46,XY,-2,+der(2)t(2;5)(2qter->2p25::5q33->5qter)mat.,46,XX and XY,t(2;5)(p25;q33).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p-,5q+
    Index Terms: Arthropathy ... inflammatory
    Negative band
  • Kung Ihnat D H, McIlvain-Simpson G, Conrad K, Scott C I, Singsen B H.: Inflammatory arthropathies in children with chromosomal abnormalities. J. Rheumat. 20:742-746, 1993. [PubMed: 8496877]
    Scott C I, Jr.: Personal communication, 1995.
    Patient A.G.
    46,XY,-2,+der(2)t(2;5)(p25;q33)mat.
    The young boy had inflammatory arthropathy similar to juvenile rheumatoid arthritis. Dr. Scott informs me that the patient has now developed acute myeloid leukemia (June 21, 1995).
    There were two other maternal family members who carried the balanced translocation besides the mother.
    Aberration: Reciprocal translocation
    MIM#: 180300
    Index Terms: Arthropathy inflammatory, juvenile rheumatoid arthritis like
    Negative band
  • Lacassie Y, Arriaza M I, Vargas A, La Motta I.: Ring 2 chromosome: Ten-year follow-up report. AJMG 85:117-122, 1999. [PubMed: 10406663]
    mos45,XY,-2[27%]/46,XY[2%]/46,XY,r(2)(p25q37.3)[65%] in 55 mitoses in blood cultures examined at 7 years of age.
    Initial karyotyping was done at birth in 1988. This patient appears to be the oldest patient with this condition. He has clinodactyly, hypogenitalism, microcephaly, postnatal retardation and had evidence of IUGR.
    Aberration: Ring chromosome
    MIM#: 180860
    Index Terms: Silver-Russell syndrome
  • Maraschio P, Danesino C, Garau A, Saputo V, Vigi V, Volpato S: Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation. Hum. Genet. 48:157-167, 1979. [PubMed: 457140]
    Case 1, ZM, 2-1/2 months old in this report.
    46,XY,r(2)(p25q37).
    Case 2, 2-1/2 years old in this report.
    Case 3, SA, previously reported by Garau et al (1973) died at 10-1/2 months of age.
    46,XY,r(2)(pq).
    Father of case 2.
    46,XY,der(2)der(6)t(2;6)(p15;q15)mat.,46,XX,r(2/6)(2q37->2p15::6q15->6q27).
    Aberration: Ring chromosome
    Negative band
  • Moross T, Vaithilingam S S, Styles S M, Gardner H A: "Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation." J. Med. Genet. 21:52-53, 1984. [PMC free article: PMC1049206] [PubMed: 6694185]
    46,XX or XY,der(2)der(14)t(2;14)(p25;q24)mat.
    Aberration: Reciprocal translocation
    MIM#: 156850
    Negative band
  • Palmer 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 Nos. 239 and 240.
    46,XX,t(2;11)(p25;p11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Pasquali F, Zuffardi O, Zamboni G, Bernardi F: "Translocation t(2;12)(p25;q21) first classified as 2/X." Ann. Genet. 18:64-66, 1975. [PubMed: 50045]
    Case C.G. in this report.
    46,XX,rcp(2;12)(p25;q21).,46,XX,rcp(2;12)(2qter->2p25::12q21->12qter;,12pter->12q21::2p25->2pter).
    Aberration: Reciprocal translocation
    Negative band
  • Patil S 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]
    Williamson R A, Weiner C P, Patil S R, Benda J, Varner M W, Abu-Yousef M M: Abnormal pregnancy sonogram: selective indication for fetal karyotype. Obst. Gynecol. 69:15-20, 1987. [PubMed: 3540760]
    13 out of 41 fetuses had chromosome anomalies. Only seven survived.
    Observation No. 277.
    46,XX,-17,+der(17),t(2;17)(p25;q23)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Richter S, Lockwood B, Lockwood D H, Allanson J E: Abnormal chromosome complement resulting from a familial inversion of chromosome 2. J. Med. Genet. 26:725-729, 1989. [PMC free article: PMC1015743] [PubMed: 2479747]
    46,XX,inv(2)(p25q35).&46,XX,rec(2),dupq,inv(2)(p25q35)mat.
    One of the individuals with the recombinant chromosome was 32 years old and working at a sheltered workshop.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: 2q+,2p-
    Negative band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XX,t(2;7)(p25;q22)
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Subrt I, Kozak J, Hnikova O: Microdensitometric identification of the pericentric inversion of chromosome No. 2 and of duplication of the short arm of chromosome No. 7 in a reexamined case. Hum. Hered. 23:331-337, 1973. [PubMed: 4130027]
    46,XX,inv(2)(p25q13),dup(7)(p14p13 or p13p14).,46,XX,inv(2)(pter->p25::q13->p25::q13->qter),dup(7),(pter->p14::p13->qter) or dup(7)(pter->p13::p14->qter).
    Aberration: Inversion pericentric
    Negative band
  • Sutherland G R, Carter R F: 46,XX/46,XX,r(2)(p25q37)mosaicism: Clinical and Cytogenetic Studies. Ann. Genet. 21:164-167, 1978. [PubMed: 315192]
    A severely mentally retarded and physically handicapped patient is described, a first published report of ring chromosome 2.
    Aberration: Ring chromosome
    Negative band
  • Thomas N S, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P.: Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum. Genet. DOI=10.1007/s00439-006-0157-6; 119:444-450, 2006. [PubMed: 16493556]
    Thomas N S, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P.: Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum. Genet. DOI=10.1007/s00439-006-0157-6; 119:444-450, 2006. [PubMed: 16493556]
    Thomas N S, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P.: Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum. Genet. DOI=10.1007/s00439-006-0157-6; 119:444-450, 2006. [PubMed: 16493556]
    Thomas N S, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P.: Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum. Genet. DOI=10.1007/s00439-006-0157-6; 119:444-450, 2006. [PubMed: 16493556]
    Thomas N S, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P.: Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum. Genet. DOI=10.1007/s00439-006-0157-6; 119:444-450, 2006. [PubMed: 16493556]
    Patient No. 53:
    r(2)(p25q37)de novo with paternal origin.
    115 abnormalities were studied: 39 terminal deletions, 35 interstitial deletions, 8 rings, 12 duplications and 21 unbalanced translocations. Majority were of paternal origin 58% in duplications to 84% in interstitial deletions
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 2p-;2q-
    Index Terms: Parental origin of chromosome abnormalities
  • Vigfusson N V, Kapstafer K J, Lloyd M A: Ring chromosome 2 in a child with growth failure and few congenital abnormalities. AJMG 7:383-389, 1980. [PubMed: 7468662]
    A 19 months old patient is presented, parents have normal chromosomes; mother was 25 years old and father was 26 years old; with severe intrauterine growth retardation, postnatal growth failure and a few minor abnormalities.&mos 46,XX/46,XX,r(2)(p25q37).
    Aberration: Ring chromosome
    Negative band
  • Wahlstrom J, Kyllerman M: On the significance of pericentric inversions of chromosome 2. Hum. Genet. 74:328, 1986. [PubMed: 3781564]
    Father and a son had the balanced inversion; whereas a son and a daughter had the unbalanced recombinant with trisomy of 2q.
    46,XY,inv(2)(p25q34).&46,XX and XY,dup q,inv(2)(p25q34)pat.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: 2q+
    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;17)(p25;q22).
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105820
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