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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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02p130

2p13
  • Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]
    Case referred because of nine repeated abortions.
    46,XY,t(2;6)(p13;q21.3).
    Aberration: Reciprocal translocation
  • Angell R R, Sandison A, Bain A D: Chromosome variation in perinatal mortality: a survey of 500 cases. J. Med. Genet. 21:39-44, 1984. [PMC free article: PMC1049204] [PubMed: 6229635]
    Case No. 13.
    46,XX,inv(2)(p13q11).
    Aberration: Inversion pericentric
    Index Terms: Perinatal death
    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. 11742 in this report.
    46,XX,t(2;6)(p13;p25).,46,XX,t(2;6)(2pter->2p13::6p25->6qter;6pter->6p25::2p13->2qter).
    Aberration: Reciprocal translocation
    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;8)(p13;q22); inv(2)(p13q35).
    Aberration: PI,RT
    Negative band
  • Castle D, Bernstein R: Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. AJMG 29:549-556, 1988. [PubMed: 3376998]
    46,XY,t(2;8)(p13;q13).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Cohen M M, Dahan S, Shaham M: Cytogenetic evaluation of 500 Jerusalem newborn infants. Israel J. Med. Sci. 11:969-977, 1975. [PubMed: 1193831]
    Three cases of this inversion were found.&inv(2)(p13q21).
    Aberration: Inversion pericentric
    Negative band
  • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia M C, Anichini C, Ferrero G B, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdere C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zalante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch J R, Zuffardi O.: Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J. Med. Genet. 44: 750-762, 2007. [PMC free article: PMC2652810] [PubMed: 17766364]
    Patient 1:
    46,XX,t(2;7)(2qter->2p13::7q31.1->7qter;7pter->7q31.1::2p13->2pter).After CGH: del(7)(q22.3-q31.1) 7.8 Mb.
    Patient was 22 years old with verbal dyspraxia, mildly delayed psychomotor development.
    Aberration: RT,ID
    Chromosomal Aneuploidy: 7q-
    Index Terms: CGH
  • Drummond-Borg M, Kulharya A S, Tonk V, Garcia-Heras J.: Maternal complex chromosome rearrangement ascertained through a del(13)(q12.1q14.1) detected in her midly affected daughter. AJMG 107:61-63, 2002. [PubMed: 11807870]
    Mother=46,XX,der(2)(2qter->2p13::13q12.3->13q12.1::20p13),der(13)del(q12.1q14.1),der(20)(20qter->20p13::13q14.1->13q12.3::2p13->2pter).,Patient=46,XX,del(13)(q12.1q14.1).ish del(13)(q12.1q14.1)(RB1x2)mat.
    The patient was 2 1/2 months with MCA and the mother was normal.
    Aberration: IX,ID
    Chromosomal Aneuploidy: 13q-
  • Escobar J I, Lakatua D J, Streifel B, Virnig N L, Sanchez O: A chromosome No. 2 abnormality in a child with a few congenital defects. Clin. Genet. 11:8-12, 1977. [PubMed: 830454]
    46,XX,inv ins(2)(q11p21p13),46,XX,ins(2)(pter->p21::p13->q11::p21->p13::q11->qter).,Both parents were found to have normal chromosome patterns. The four-month-old child had an imperforate anus, a recto-vaginal fistula, unilateral atresia of the inner canal and deformity of the external ear.
    Aberration: Inverted insertions within a chromosome
    Index Terms: Anus ... imperforated,Ears ... anomalies (dysmorphic),Recto-vaginal fistula
    Negative band
  • Fineman R M, Buyse M, Morgan M: Variable phenotype associated with duplication of different regions of 2p. AJMG 15:451-456, 1983. [PubMed: 6881212]
    46,XX,t(2;9)(p13;p24).
    Patient 2.
    46,XX,der(9)t(2;9)(9qter->9p24::2p13->2pter)mat.
    Patient 3.
    46,XY,der(9)t(2;9)(9qter->9p24::2p13->2pter)mat.
    Aberration: Simple translocation
    Negative band
  • Fryns J P, Kleczkowska A, Kenis H, Decock P, Van den Berghe H: Partial duplication of the short arm of chromosome 2 (dup(2)(p13 to p21) associated with mental retardation and an Aarskog-like phenotype. Ann. Genet. 32:174-176, 1989. [PubMed: 2573314]
    Fryns J P.: Gingival fibromatosis and partial duplication of the short arm of chromosome 2 (dup(2)(p13->p21)). Ann. Genet. 39:54-55, 1996. [PubMed: 9297447]
    Shashi V, Pallos D, Pettenati M J, Cortelli J R, Fryns J-P, von Kap-Herr C, Hart T C.: Genetic heterogeneity of gingival fibromatosis on chromosome 2p. J. Med. Genet. 36:683-686, 1999. [PMC free article: PMC1734431] [PubMed: 10507724]
    Shashi et al suggest that two different gene loci on chromosome 2p are involved in GF.
    Patient C.A.
    46,XY,dup(2)(p13p21).
    Severe growth retardation and moderate psychomotor delay was noticed along with dysmorphic features of Aarskog syndrome.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 2p+
    Index Terms: Gingival fibromatosis,Aarskog-like syndrome
    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;3)(p13;p14).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Fryns J P, Petit P, Heffinck R, Van den Berghe H: Mosaic pericentric inversion of chromosome 2. J. Genet. Hum. 31:157-161, 1983. [PubMed: 6631425]
    Kleczkowska A, Fryns J P, Van den Berghe H: On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J. Med. Genet. 27:505-507, 1990. [PMC free article: PMC1017199] [PubMed: 2213843]
    mos46,XY(88)/46,XY,inv(2)(p13q11)(24).
    The 8 year old boy has MCA/MR syndrome, and was institutionalised.
    Aberration: Inversion pericentric
    Negative band
  • Geiger C J, Salzano F M, Mattevi M S, Erdtmann B, da Rocha F J: Chromosome Variation and genetic counseling-20 years of experience in Brazil. Brazil. J. Genet. 10:581-591, 1987.
    4 females and 4 males were carriers.
    46,XX or XY,inv(2)(p13 -> qter).
    Aberration: Inversion pericentric
    Negative band
  • Hesselbjerg U, Friedrich U: Pericentric inversion in chromosome no. 2 as a de novo mutation. Hum. Genet. 53:117-119, 1979. [PubMed: 295041]
    46,XX,inv(2)(p13q21).,46,XX or XY,der inv(2)(p13q21)mat.,A 32-year-old pregnant woman, karyotyped as part of a prenatal diagnostic test, was found to have a de novo inversion of chromosome 2. Her parents were karyotypically normal. Two of her three children have the same inversion.
    Aberration: Inversion pericentric
    Negative band
  • Howard-Peebles P N, 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. 237
    46,XY,t(2;11)(p13;q21)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Karp L, Resta 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]
    Observation No. 198.
    46,XX,t(2;6)(p13;p23)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Kieran M W, Vekemans M J J, Robb L J, Sinsky A, Outerbridge E W, Der Kaloustian V M: "Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat." AJMG 44:288-292, 1992. [PubMed: 1488975]
    Also see report by Courtens et al under 21+.
    Patient CL.
    47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat.,Mother-46,XX,t(2;21)(p13;q22.1).
    The infant, diagnosed as having a shunt between the portal vein and the inferior vena cava (portohepatic shunt), died at day 42.
    Aberration: Simple translocation
    Index Terms: Portohepatic shunt
    Negative band
  • Kozma C, Subasinghe C, Meck J.: Prenatal detection of de novo inversion of chromosome (2)(p13q11.2) and postnatal follow-up. Prenat. Diag. 16:366-370, 1996. [PubMed: 8734815]
    46,XX,inv(2)(p13q11.2)de novo.
    The 4 year old showed minor craniofacial dysmorphism, hypotonia, hearing loss, gustatory flushing syndrome, and severe devlopmental delays.
    Aberration: Inversion pericentric
    Negative band
  • Mattevi M S, Pinheiro C E A, Erdtmann B, Flores R Z, Salzano F M: Familial pericentric inversion of chromosome 2. J. Genet. Hum. 29:161-169, 1981. [PubMed: 7328411]
    46,XX and XY,inv(2)(p112/13q35/371)mat and pat.,This inversion was found in several members in two generations of a family. Breakpoints are thought to be probably p13 and q371.
    Aberration: Inversion pericentric
    Negative band
  • Monteleone P L, Blair J D, Graviss E R, Chen S C, Salvador A, Grzegocki J A, Monteleone J A: De novo partial 2p duplication with postmortem description. AJMG 10:55-64, 1981. [PubMed: 7197468]
    Parental karyotypes were normal. Patient died after 11 days.,46,XX,-8,+der(8)t(2;8)(p13;p23).,46,XX,-8,+der(8)t(2;8)(8qter->8p23::2p13->2pter).
    Aberration: Simple translocation
    Negative band
  • Mozdarani H, Meybodi A M, Zari-Moradi S.: A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure. Ind. J. Hum. Genet. 14: 1-6, 2008. [PMC free article: PMC2840781] [PubMed: 20300283]
    46,XY,der t(2;8)(p13;p23).
    Aberration: Reciprocal translocation
  • Pai G S, Rogers J F, Sommer A: Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father. AJMG 14:189-195, 1983. [PubMed: 6829607]
    46,XY,ins(2)(pter->p13::q31->q33::p13->q31::q33->qter).,46,XX,der(2)(pter->q31::q33->qter)del(q32)pat.
    Aberration: Direct insertions within a chromosome
    Negative band
  • Saadallah N, Hulten M A: A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility. Hum. Genet. 71:312-320, 1985. [PubMed: 4077048]
    Patient was 28 years old.
    46,XY,t(2;4;9)(p13;q25;p12).,46,XY,t(2;4;9)(2qter->2p13::4q25->4qter;4pter->4q25::9p12->9pter;9qter->9p12::2p13->2pter).
    Aberration: Complex translocation
    Negative band
  • Schwartz S, Palmer C G: Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history. Hum. Genet. 63:28-34, 1983. [PubMed: 6832778]
    46,XX,rcp(2;18)(p13;p11).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Tharapel A T, Summitt R L, Wilroy R S, Jr, Martens P R: Apparently balanced de novo translocations in patients with abnormal phenotype: report of 6 cases. Clin. Genet. 11:255-269, 1977. [PubMed: 856508]
    Case 4 in this report.
    46,XX,rcp(2;20)(p13;p12).,The patient''s phenotype is characterized by mental retardation, macrocephaly with dilated lateral ventricles, seizures, telecanthus, short philtrum, highly arched palate, micrognathia, short neck, widely spaced nipples, patent ductus arteriosus, distal axial triradii, bilateral loop ulnar hypothenar pattern.
    Aberration: Reciprocal translocation
    Index Terms: Macrocephaly,Micrognathia,Neck ... short,Palate ... high arched,Philtrum ... short,Seizures,Telecanthus
    Negative band
  • Therkelsen A J, Hulten M A, Jonasson J, Lindsten J, Christensen N C, Iversen T: Presumptive direct insertion within chromosome 2 in man. Ann. Hum. Genet. 36:367-373, 1973. [PubMed: 4748757]
    46,XY,ins(2)(q34p13p24).,46,XX and XY,rec(2)dup p,ins(2)(q34p13p24).,Recombinant and inverted insertions have been found.
    Aberration: II,RE
    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,XY,inv(2)(p13q31).
    Aberration: Inversion pericentric
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105868
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