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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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  • Dode C, Levilliers J, Dupont J-M, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra R S, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel J-C, Delemarre-van de Waal H, Goulet-Salmon B, Kottler M-L, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin J-P.: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nature Genet. 33:463-465, 2003. [PubMed: 12627230]
    Vermeulen S, Messiaen L, Scheir P, De Bie S, Speleman F, De Paepe A.: Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. AJMG DOI=10.1002/ajmg.10295; 108:315-318, 2002. [PubMed: 11920837]
    46,XY,del(8)(p11.2)de novo
    Aberration: Interstitial deletion
    MIM#: 147950
    Chromosomal Aneuploidy: 8p-
    Index Terms: Kallmann syndrome,FGFR1,KAL2
  • Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O. : The same molecular mechanism at the maternal meiosis I produces mono- and dicentric duplications. AJHG 58:785-796, 1996. [PMC free article: PMC1914661] [PubMed: 8644743]
    Giglio S, Broman K W, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber J L, Ledbetter D H, Zuffardi O.: Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromoeome rearrangements. AJHG 68:874-883, 2001. [PMC free article: PMC1275641] [PubMed: 11231899]
    Gorinati M, Caufin D, Minelli A, Memo L, Gaspardo G, Dodero A: Inv dup (8)(p21.1 to 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality. Clin. Genet. 39:55-59, 1991. [PubMed: 1997216]
    Minelli A, Floridia G, Rossi E, Clementi M, Tenconi R, Camurri L, Bernardi F, Hoeller H, Re C P, Maraschio P, Wood S, Zuffardi O, Danesino C: D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum. Genet. 92:391-396, 1993. [PubMed: 7901142]
    Pramparo T, Giglio S, Gregato G, de Gregori M, Patricelli M G, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O.: Inverted duplications: how many of them are mosaic? Europ. J. Hum. Genet. 12:713-717, 2004. [PubMed: 15266302]
    Giglio et al state ''the OR-8p inversion is the second genomic polymorphism that confers susceptibility to the formation of common chromosome rearrangements''. The first being the Yp inversion polymorphism.
    46,XX,del(8)(p11.2[26]/46,XX,inv dup(8p)[98] with three of the inv dup(8p) metaphases having a satellited translocated to the short arm of the inv dup(8p).
    Both parents had a normal karyotype on 550 bands.FISH on the metaphases from the mother revealed the presence of cryptic heterozygous inversion between REPP and REPD
    9 cases were studied by Minelli et al (1993) in addition to the case reported earlier by Gorinati et al (1991).
    Cases 1-6, type 1:46,XX or XY,dic inv dup(8p),(cen->p23.1::p23.1->qter).,Cases 7-14, type 2:46,XX or XY,invdup(8p),(p11.2->p23.1::p23.1->qter), ,and Cases 15 and 16:(p21->p23.1::p23.1->qter).
    In the 1996 paper the authors studied 16 cases including the 9 cases reported by Minelli et al (1993).
    Aberration: II,DI
    Chromosomal Aneuploidy: 8p+
    Negative band
  • Guo W J, Callif-Daley F, Zapata M C, Miller M E.: Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. AJMG 58:230-236, 1995. [PubMed: 8533823]
    Cases 4, 6, and 7.
    46,XX or XY,inv dup del(8)(qter->p23.1::p23.1->p11.2)de novo.
    Cases 4 & 6 are 10 and 20 years old respectively and have MCA/MR.
    A telomeric deletion was confirmed by FISH using a probe for 8p.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8p+
    Index Terms: Telomer ... deletion
    Negative band
  • Holzgreve W, Schonberg S A, Douglas R G, Golbus M S: X-chromosome hyperploidy in couples with multiple spontaneous abortions. Obst. Gynecol. 63:237-240, 1984. [PubMed: 6694820]
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Kostiner D R, Nguyen H, Cox V A, Cotter P D.: Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q. Cytogenet. Genome Res. 98:9-12, 2002. [PubMed: 12584435]
    46,XX,add(8)(p22)de novo.,46,XX,der(8)(8qter->8p23.1::8p23.1->8p11.2::18q21.3->18qter).
    The proband had dysmorphic features and multiple heart defects, including Tetralogy of Fallot, pulmonary atresia, ASD, and patent ductus arteriosus. The infant expired soon after surgery.
    Aberration: IP,DU,ST
    Chromosomal Aneuploidy: 8p-;8p+;18q+
  • Lux S E, Tse W T, Menninger J C, John K M, Harris P, Shalev O, Chilcote R R, Marchesi S L, Watkins P C, Bennett V, McIntosh S, Collins F S, Francke U, Ward D C, Forget B G: Hereditary spherocytosis associated with deletion of erythrocyte ankyrin gene on chromosome 8. Nature 345:736-739, 1990. [PubMed: 2141669]
    Work on two unrelated children is presented.
    DNA probes for erythrocyte ankyrin and the anion exchanger AE1 were used.
    Aberration: Interstitial deletion
    MIM#: 182900
    Chromosomal Aneuploidy: 8p-
    Negative band
  • Melnyk A R, Dewald G: Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies. AJMG 50:12-14, 1994. [PubMed: 7512788]
    Patient was 15 months old.
    47,XX,r(8)(?p11.2q11.2)de novo.
    An alphoid probe, CEP-8, Imagenetics, was used.,Also see Batanian et al (2000) under 080000.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 8p+,8q+
    Index Terms: FISH
    Negative band
  • Pabst B, Arslan-Kirchner M, Schmidtke J, Miller K.: The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature. Cytogenet. Genome Res. 103:3-7, 2004. [PubMed: 15004455]
    46,XX,inv dup (p22p11.2),del(8)(p23 terminal region)
    The 8 year old girl was studied because of developmental delay and MR.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+,8p-
  • Priest J H.: Duplication/deletion of chromosome 8p. AJMG 58:237, 1995. [PubMed: 8533824]
    mos46,XY/46,XY,dup del(8)(qter->p23::p11.2->p23:).
    The patient was 2 years old with hypotonia and developmental delay.
    Dr. Priest in an invited editorial gives an interesting opinion about the deletion of the region containing D8S596 loci.
    Aberration: PI,DU,TD
    Chromosomal Aneuploidy: 8p+
    Index Terms: 8p dup/del
    Negative band
  • Sergovich F 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. 811.
    Aberration: Reciprocal translocation
    Negative band
  • Stratton R F, Crudo D F, Varela M, Shapira E: Deletion of the proximal short arm of chromosome 8. AJMG 42:15-18, 1992. [PubMed: 1308359]
    46,XY,del(8)(p11.2p21)de novo.
    The 5 month old manifested bilateral cleft lip and palate, and apparent hypogonadism but no red blood cell abnormality.
    It is suggested that the gene for hereditary spherocytosis (HS) is located in the region 8p11.1 to 8p11.2.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: Spherocytosis
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106758


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