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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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  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 1062 in this report.
    46,XX,t(6;7)(q11;p2205).&"46,XX,t(6;7)(6pter -> 6q11::7p22 -> 7pter;7qter -> 7p22::6q11 -> 6qter)."
    Aberration: Reciprocal translocation
    Variable band
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    Aberration: Reciprocal translocation
    Variable band
  • Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    Aberration: Simple translocation
    Index Terms: Metabolic disorders
    Variable band
  • Giardino D, Rizzi N, Briscioli V, Bettio D.: A de novo 6q11-q15 duplication investigated by chromosome painting. Clin. Genet. 46:377-379, 1994. [PubMed: 7889650]
    46,XY,dir dup(6)(q11->q15)de novo.
    Patient evaluated at 14 years of age because of dysmorphic features and MR.
    Aberration: Duplication
    Chromosomal Aneuploidy: 6q+
    Variable band
  • Lin M S, Zhang A, Fujimoto A, Wilson M G: A rare 6q11+ heteromorphism: cytogenetic analysis and in situ hybridization. Hum. Hered. 44:31-36, 1994. [PubMed: 8163289]
    This heteromorphism was found during amniocentesis. It was C-band positive.
    Aberration: Marker chromosome
    Variable band
  • Romie S S, Hartsfield J K, Jr., Sutcliffe M J, Dumont D P, Kousseff B G.: Monosomy 6q1: syndrome delineation. AJMG 62:105-108, 1996. [PubMed: 8882389]
    46,XX,del(6)(q11;q15)de novo.
    The phenotype includes mental deficiency, growth retardation, short neck, and minor facial anomalies. Data upto 5 years of age are presented.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Variable band
  • Slater H R, Robb A, Forsyth L A, Hamilton D A, Clark M C, Galloway C A S: Interstitial deletion (6)(q11 to q15) in an infant with congenital abnormalities. J. Med. Genet. 25:210-211, 1988. [PMC free article: PMC1015492] [PubMed: 3351912]
    Patient was 9 months old.
    46,XY,del(6)(pter -> q11::q15 -> qter).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Variable band
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    Aberration: Interstitial deletion
    Variable band
  • Wang J-C, Dang L, Lomax B, Turner L, Shago M, Teebi A S, Klatt R, MacLeod P M, Yong S-L, Nowaczyk M J M, Eydoux P.: Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. AJMG Part A: 149A: 372-379, 2009. [PubMed: 19213033]
    Patient 1=46,XX,del(60(q11q13)dn;,Patient 2=46,XY,rec(6)del(6q)ins(6)(p213q13q15)pat;,Patient 3=46,XY,del(6)(q14q14)dn;,Patient 4=46,XY,del(6)(q13q15),t(9;21)(p13;p12)dn;,Patient 5=46,XX,rec(6)del(6q)ins(6)(p213q13q15)mat;,Patient 6=46,XX,rec(6)del(6q)ins(6)(p21.3q13q15)mat;,Patient 7=46,XY,del(6)(q13q15)dn.
    These authors concluded that umbilical hernia, hypotonia, short stature, characteristic facial features of upslanting palpebral fissures, low set and/or dysplastic ears and high arched palate, urinary tract anoamlies, and skeletal/limb anomalies are the major features of 6q interstitial deletions.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
  • 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]
    Aberration: Reciprocal translocation
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105850


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