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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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  • Bernasconi F, Karaguzel A, Celep F, Keser I, Luleci G, Dutly F, Schinzel A.: Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). AJHG 59:1114-1118, 1996. [PMC free article: PMC1914849] [PubMed: 8900241]
    46,XX,i(2)(p10),i(2)(q10).
    The proband was 36 years old, a normal healthy female with all of her five spontaneous abortions during the first trimester.
    Maternal only inheritance was found for chromosome 2 markers and that the isochromosomes were derived from a single maternal chromosome 2. It is suggested that no maternally imprinted genes with major effect map to chromosome 2.
    Aberration: IC,UPD,IS
    Index Terms: Maternal ... isodisomy
  • Breg W R, Miller D A, Allderdice P W, Miller O J: Identification of translocation chromosomes by quinacrine fluorescence. AJDC 123:561-564, 1972. [PubMed: 4113489]
    Patient No. 3 in this report.
    46,XX,t(2p6q)t(2q6p).
    Aberration: Whole-arm translocations
    No band
  • Creasy M R: Personal communication, 1990.
    Creasy M R, Crolla J A: Complex chromosomal rearrangements. Clin. Genet. 19:481-482, 1981. [PubMed: 7296941]
    Creasy M R, Crolla J A, Polani P E, Elliott M H: A three chromosome translocation involving two homologous chromosomes in a trisomic abortus. Clin. Genet. 9:15-19, 1976. [PubMed: 1248160]
    mos46,XY,t(2;21;21)(2p21q;2q21q),+21/47,XY,+21.
    Both parents were chromosomally normal and the interchange was most probably a post-meiotic translocation in a trisomic zygote.
    Aberration: Whole-arm translocations
    No band
  • Deryagin G V, Badaev N S, Ivdansky A B, Podugolnikova O A: A study of the spiralization dynamics in normal and inverted human chromosome No. 2. Tsitologia 16:621-625, 1974.
    No band
  • Hagerman R, Berry R, Jackson A W III, Campbell J, Smith A C M, McGavran L: Institutional screening for the fragile X syndrome. AJDC 142:1216-1221, 1988. [PubMed: 3177330]
    Case 2
    46,XY,t(2;16).
    Macrocephaly, hyperkeratosis.
    Aberration: Simple translocation
    No band
  • Hansen W F, Bernard L E, Langlois S, Rao K W, Chescheir N C, Aylsworth A S, Smith D I, Robinson W P, Barrett I J, Kalousek D K.: Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat. Diag. 17:443-450, 1997. [PubMed: 9178319]
    mos47,XY,+2/46,XY,upd(2)mat (please see details of tissue specific data in the paper).
    The infant died 1 h and 45 min after birth from severe pulmonary hypoplasia.
    It is suggested that the IUGR and oligohydramnios may be related to the placental insufficiency due to the high levels of trisomy 2 present in the trophoblast of the term placenta and the presence of UPD 2 in the diploid placental line.
    Aberration: Uniparental disomy
    Index Terms: upd(2)mat,Hypospadias,Oligohydramnios
  • Hecht F, Hecht B K, Berger C S: Aneuploidy in recurrent spontaneous aborters: the tendency to parental nondisjunction. Clin. Genet. 26:43-45, 1984. [PubMed: 6467654]
    46,XX,t(2;7).
    Aberration: Simple translocation
    No band
  • Heide E, Heide K.-G, Rodewald A.: Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity. AJMG 92:260-263, 2000. [PubMed: 10842292]
    An interesting phenomenon in this phenotypically normal 3 year old girl.
    Aberration: Uniparental disomy
  • Herbschleb-Voogt E, Grzeschik K H, Pearson P L, Khan P M: Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids Hum. Genet. 59:317-323, 1981. [PubMed: 6120891]
    No band
  • Ivanov V I, Levina L Y, Smolyanova G G.: Human chromosome 2: database for cytogenetic mapping and phenotypic characteristics of structural aberrations. Russ. J. Genet. 33:1436-1441, 1997.
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K128-227-68 in this report.
    46,XX,t(2p7q)t(2q7p).
    Aberration: Whole-arm translocations
    No band
  • Kaffe S, Hsu L Y F: Maternal serum alpha-fetoprotein screening and fetal chromosome anomalies: is lowering maternal age for amniocentesis preferable? AJMG 42:801-806, 1992. [PubMed: 1372793]
    Patient No. B-7.
    46,XY,t(2;5)mat.
    Aberration: Simple translocation
    Index Terms: MSAFP
    No band
  • Koch G A, Schoen R C, Klebe R J, Shows T B: Assignment of a fibronectin gene to human chromosome 2 using monoclonal antibodies. Exp. Cell Res. 141:293-302, 1982. [PubMed: 6183132]
    MIM#: 135600
    No band
  • Kohn G: Personal communication, 1978.
    46,XX,t(2;6).
    Aberration: Simple translocation
    No band
  • Kosztolanyi G, Bajnoczky K, Mehes K: Balanced chromosome rearrangements and abnormal phenotype. Acta Paediat. Hung. 31:397-402, 1991. [PubMed: 1790022]
    Case No. 8.
    inv(2)mat.
    Mental retardation and facial dysmorphism was noticed.
    "The most plausible explanation seems to be a by chance coincidence........".
    Aberration: Simple translocation
    No band
  • Laurie D A, Hulten M A, Jones G H: Chiasma frequency and distribution in a sample of human males: chromosomes 1, 2, and 9. Cytogenet. Cell Genet. 31:153-166, 1981. [PubMed: 6173167]
    Laurie D A, Palmer R W, Hulten M A: Chiasma derived genetic lengths and recombination fractions: chromosomes 2 and 9. Ann. Hum. Genet. 46:233-244, 1982. [PubMed: 7125595]
    No band
  • Luke S, Verma R S: Origin of human chromosome 2. Nature Genet. 2:11-12, 1992. [PubMed: 1303243]
    Samonte R V, Ramesh K H, Verma R S.: Origin of human chromosome 2 revisited. J. Genet. 77:41-44, 1998.
    No band
  • Merz T, El-Mahdi A M, Prempree T: Unusual chromosomes and malignant disease. Lancet 1:337-339, 1968. [PubMed: 4170166]
    One abnormally long chromosome 2 was found in the karyotypes of individuals with family history of tumors.
    Aberration: Marker chromosome
    No band
  • Ohama K, Kusumi I, Takahara H, Kajii T: Successive spontaneous abortions including one with whole-arm translocation between chromosome 2. Hum. Genet. 40:221-225, 1978. [PubMed: 624550]
    46,XX,t(2;2)(2p2p;2q2q)/46,XX.&The other two abortuses had normal karyotypes.
    Aberration: Whole-arm translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Plattner R, Heerema N, Yurov Y B, Palmer C G: Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum. Genet. 91:131-140, 1993. [PubMed: 8462972]
    Case 26.
    mos46,XY/47,XY,+2(small marker like).
    No band
  • Shaffer L G, McCaskill C, Egli C A, Baker J C, Johnston K M.: Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes? AJHG 61:461-462, 1997. [PMC free article: PMC1715890] [PubMed: 9311755]
    46,XY,i(2)(p10),i(2)(q10)
    The authors report on a case with IUGR and oligohydramnios. They suggest, on the basis of two other cases reported, in abstracts, that there may some common features associated with upd, and cpm.
    Aberration: IC,IS
    Index Terms: Maternal isodisomy
  • Sider D, Wilson W G, Sudduth K, Atkin J F, Kelly T E: Cytogenetic studies in couples with recurrent pregnancy loss. Southern Med. J. 81:1521-1524, 1988. [PubMed: 3201300]
    46,XY,inv(2).
    No 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,t(2p12p)(2q12q).
    Aberration: Whole-arm translocations
    No band
  • Wassman E R, Cheyovich D L, Nakahara Y: """Possibly"" de novo translocations: prenatal risk counseling." Am. J. Obstet. Gynecol. 161:698-702, 1989. [PubMed: 2476932]
    t(2;14).
    Normal 7mo male, placental defect, abruptio placentae, disseminated intravascular coagulation at birth.
    Aberration: Simple translocation
    No band
  • Xia J, Li L, Dai H, Xu J, Xu F, He X: G-banded chromosomes of 3,415 liveborn infants. Chin. Med. J. 97:921-927, 1984. [PubMed: 6443290]
    Case No. 01588,270481.
    46,XX,t(2;19)(2p19q;2q19p).
    Aberration: Whole-arm translocations
    No band
  • Zergollern L, Lasan R: Cytogenetics of spontaneous abortions. Acta Med. (Yugoslavia) 36:107-113, 1982. [PubMed: 7113736]
    Case C.D., gestational age of 12 weeks.
    46,XX,del(2).
    Aberration: Terminal deletion
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107085
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