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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Aoki T, Yoshimitsu K, Itodagawa M, Okazaki H, Sugimoto T, Kobayashi Y: Ring chromosome 21 and SOD activity of blood cells. Acta Paed. Scand. 75:1055-1058, 1986. [PubMed: 3564968]
    Patient was 2 years old with dysmorphic features.
    Aberration: Ring chromosome
    MIM#: 147450
    Variable band
  • Crombez E A, Dipple K M, Schimmenti L A, Rao N.: Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. Clin. Dysmorphol. 14:183-187, 2005. [PubMed: 16155419]
    46,XX,r(21).ish r(21)(p11.2q22.3)(AML1++,LSI21++,VIJyRM2029-).
    A newborn patient was studied.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 21q+
  • Dallapiccola B, De Filippis V, Notarangelo A, Perla G, Zelante L: Ring chromosome 21 in healthy persons: different consequences in females and in males. Hum. Genet. 73:218-220, 1986. [PubMed: 3733078]
    Patient D.P.F. was 34 years old. Parental karyotypes were normal.
    Aberration: Ring chromosome
    Variable band
  • de Perdigo A, Gabriel-Robez O, Rumpler Y: Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion. Hum. Genet. 83:274-276, 1989. [PubMed: 2793171]
    Gabriel-Robez O, Ratomponirina C, Croquette M, Couturier J, Rumpler Y: Synaptonemal complexes in a subfertile man with a pericentric inversion in chromosome 21. Cytogenet. Cell Genet. 48:84-87, 1988. [PubMed: 3197453]
    Case 6.
    Patient was 31 years old and his wife has had 4 miscarriages.
    No evidence of a loop configuration was found.,Also see report by Gabriel-Robez et al (1994) in Ann. Gen et. 37:3-10.
    Aberration: Inversion pericentric
    Index Terms: Synapsis
    Variable band
  • Ikeuchi T, Yamamoto K, Qiao F, Hayakawa K, Migita T, Nishikawa Y: Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line. Ann. Genet. 33:32-35, 1990. [PubMed: 2369070]
    The infant had a high-pitched cry and hypertelorism.
    Aberration: Ring chromosome
    Variable band
  • Ki A, Rauen K A, Black L D, Kostiner D R, Sandberg P L, Pinkel D, Albertson D G, Norton M E, Cotter P D. : Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR. AJMG DOI=10.1002/ajmg.a.20236;120A:365-369, 2003. [PubMed: 12838556]
    Amnio=mos46,XX,1ps,r(21)(p11.2q22.3)de novo[44]/,45,XX,1ps,-21[6].,Blood at birth=46,XX,1ps,r(21)(p11.2q22.3)[48]/46,XX,1ps,dic r(21)(p11.2q22.3p11.2q22.3)[2]/45,XX,1ps,-21[1].
    The 19-year-old was referred at 27 weeks for evaluation of IUGR. Minor dysmorphic features were noted at birth (<3centile).
    The ectopic NOR (1ps) was derived from 21p fragment. The deletion from 21q22.3 was about 5 Mb.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 21q-
  • Matsumoto N, Ohashi H, Tsukahara M, Kim K C, Soeda E, Niikawa N.: Possible narrowed assignment of the loci of monosomy21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2. AJHG 60:997-999, 1997. [PMC free article: PMC1712454] [PubMed: 9106547]
    46,XY,inv del(21)(p11.2->q22.1::p12->pss).
    Karyotyped at 1 year 7 months of age because of growth retardation, low-set ears, prominent nose, short neck, and MR.
    There is monosomoy for the segment 21q22.1->21qter.
    Aberration: TD,PI
    Chromosomal Aneuploidy: 21q-
    Index Terms: Microcephaly
    No band
  • Miyazaki K, Yamanaka T, Ogasawara N: A boy with Down''s syndrome having recombinant chromosome 21 but no SOD-1 excess. Clin. Genet. 32:383-387, 1987. [PubMed: 2963715]
    46,XX,inv(21)(p11.2q22.1).,46,XY,rec(21),dup q,inv(21)(p11.2q22.1)mat.
    Aberration: PI,RE
    MIM#: 147450
    Chromosomal Aneuploidy: 21q+
    Index Terms: Down syndrome (Trisomy 21)
    Variable band
  • Palmer C G, Blouin J L, Bull M J, Breitfeld P, Vance G H, Van Meter T, Weaver D D, Heerema N A, Colbern S G, Korenberg J R, Antonarakis S E, Chen X. : Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia. AJMG 57:527-536, 1995. [PubMed: 7573123]
    Family No. 86951:
    Aberration: Ring chromosome
    Index Terms: Megakaryocytic leukemia
    Variable band
  • Viersbach R, Engels H, Gamerdinger U, Hansmann M.: Delineation of supernumerary marker chromosomes in 38 patients. AJMG 76:351-358, 1998. [PubMed: 9545101]
    Case 8:
    47,XX,+r(21)(p11.2q21)de novo/46,XX
    The 7 year old patient had slightly retarded development, flat root of the nose, broad nose, wide mouth, dental anomalies, splayfoot, and hyotonicity of the trunk.
    Aberration: Ring chromosome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106444


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