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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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  • Babbs C, Heller R, Everman D B, Crocker M, Twigg S R F, Schwartz C E, Giele H, Wilkie A O M.: A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum. Genet. 122: 191-199; DOI=10.1007/s00439-007-0390-7, 2007. [PubMed: 17569090]
    This patient was 11 years old and studied in detail from the age of 6 years for SHFLD.
    The breakpoint on chromosome 2 was at 120,960,699bp and at 10,368,893bp on chromosome 18. The authors concluded that any of the nine genes (PTPN4, EPB41L5, FAM11B, RALB, 1NHBB, FLJ14816, GL12, TFCP2L1, CLASP1) may be potentially affected by a regulatory mutation within the novel SHFLD region.
    Aberration: Reciprocal translocation
    MIM#: 606708
    Index Terms: Split hand/foot malformation (SHFM)
  • Corona-Rivera A, Corona-Rivera J, Bobadilla-Morales L, Garc+¡a-Cobian T A, Corona-Rivera E.: Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4)(q14.2;q35). AJMG 90:423-426, 2000. [PubMed: 10706364]
    46,XY,t(2;4)(2pter->cen->q14.2::4q35->4qter;4pter->cen->4q35::2q14.2->2qter)de novo
    The 3 year old patient had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata.
    Aberration: Reciprocal translocation
    Index Terms: Holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES).
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Registry No. 210/77 in this report.
    Aberration: Reciprocal translocation
    Negative band
  • Mercier S, Fellmann F, Cattin J, Bresson J L.: Molecular analysis by fluorescence in situ hybridization of a prenatally detected de novo complex chromosomal rearrangement t(2q;3p;4q;13q). Prenat. Diag. 16:1046-1050, 1996. [PubMed: 8953640]
    At the 20th week of pregnancy, an ultrasound examination showed slight hydramnios and continuously closed hands. The newborn showed mild dysmorphic features: poorly differentiated ears, short neck, widely spaced nipples, distal anterior hypospadias, and bilateral hydrocele. At 7 months, psychomotor developmental retardation was seen.
    Aberration: Complex translocation
    Negative band
  • Neri G, Genuardi M, Pomponi M G, Sammito V, Zollino M: "Further evidence for the presence of a split hand/foot deformity gene on chromosome 7q21 from a family segregating a 2;7 translocation." AJHG 51:A85, 1992.
    Several members were carriers of the translocation but only two had SHFD (split hand/foot deformity).
    SHFD locus may be on 7q.
    Aberration: Reciprocal translocation
    Index Terms: Split hand/foot deformity
    Negative band
  • Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche F A, Fryns J-P.: Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat. Diag. 22:29-33, 2002. [PubMed: 11810646]
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105694


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