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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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01p120

1p12
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XX,t(1;7)(p12;q32).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Positive band
  • Groupe de Cytogeneticiens Francais: Pericentric inversions in man. A French collaborative study. Ann. Genet. 29:129-168, 1986. [PubMed: 3538996]
    12 cases of inv(1) were found.
    TR1, LL1, PA13: inv(1)(p12q212).&PA13 and PA3: inv(1)(p12q3109).
    Aberration: Inversion pericentric
    Positive band
  • Kleczkowska A, Fryns J P, Van Den Berghe H: Complex chromosomal rearrangements (CCR) and their genetic consequences. J. Genet. Hum. 30:199-214, 1982. [PubMed: 6759619]
    Case 1 (G. M.).
    47,XXY,t(1;11)(q25;q13),t(7;10)(q36;q22).
    Case 2 (R. H.).
    46,XX,t(1;8)(p12;q12),t(2;4)(p15;q27 or 8),t(4;8)(p16;p12).
    Aberration: Complex translocation
    Positive band
  • Leeflang E P, Marsh S E, Parrini E, Moro F, Pilz D, Dobyns W B, Guerrini R, Wheless J W, Gleeson J G.: Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-Transferase A2 genes. J. Med. Genet. 40:e128, 2003. [PMC free article: PMC1735351] [PubMed: 14684696]
    46,XY,der t(1;6)(q12;q12)pat.
    The translocation disrupted the genes MAN1A2 and GSTA2. The der(1) was found in paternal grandmother, and an aunt with PCR analyses.
    Aberration: Reciprocal translocation
    Index Terms: Bilateral periventricular nodular heterotopia,polymicrogyria,mannosidase alpha, class 1A (MAN1A2),Glutathione S-transferase A2 (GSTA2).
  • Mann J, Wcislo K, 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. 1159 and 1160.
    46,XY,inv(1)(p12q21.1)pat.
    Aberration: Inversion pericentric
    Positive band
  • Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic I F, Beensen V, Calussen U, Liehr T.: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum. Genet. DOI=10.1007.s004390100459, 2001. [PubMed: 11354630]
    Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]
    Postnatal case 11=47,XX,+mar[15].cenm-FISH+der(1)(p?12->q12).
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    Case 5:
    Peripheral blood=47,XX,+mar[15]de novo.cenM-FISH min(1), SubcenM-FISH 1p+;cep 1+min(1)(:p12->q12:).
    Psychomotor retardation; dysplasia of the kidney; seizures;rethinal bleeding; chronic bronchitis.
    Chromosomal Aneuploidy: 1p and q+
    Index Terms: cenM-FISH
  • Warburton D, Twersky S.: Risk of phenotypic abnormalities in paracentric inversion carriers. AJMG 69:219, 1997. [PubMed: 9056565]
    Warburton and Twersky point out the need to have some unbiased data and the similarities with sex chromosome anomalies confusion! However, I must point out that the data on sex chromosomally abnormal individuals does show that there is a substantial risk of learning and developmental disabilities! This is what other studies had shown anyway.
    der inv(1)(p12p21)pat.
    Mode of ascertainment was incidental/prenatal.
    Aberration: Inversion paracentric
    Index Terms: Inversions ... paracentric
    Positive band
  • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    Case 5:
    Peripheral blood=47,XX,+mar[15]de novo.cenM-FISH min(1), SubcenM-FISH 1p+;cep 1+min(1)(:p12->q12:).
    Psychomotor retardation; dysplasia of the kidney; seizures;rethinal bleeding; chronic bronchitis.
    Chromosomal Aneuploidy: 1p+;1q+
    Index Terms: Small supernumerary marker chromosomes (SMC),M-FISH
  • Varela 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. 1
    46,XY,t(1;2)(p12;p12)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Verma R S, Ramesh K H, Mathews T, Kleyman S M, Conte R A.: Centromeric alphoid sequences are breakage prone resulting in pericentromeric inversion heteromorphism 0f qh region of chromosome 1. Ann. Genet. 39:205-208, 1996. [PubMed: 9037348]
    Aberration: PI,MA
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106415

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