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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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  • Backx L, Fryns J-P, Marcelis C, Devriendt K, Vermeesch J, Van Esch H.: Haploinsufficiency of the gene Quaking (QK1) is associated with the 6q terminal deletion syndrome. AJMG Part A: 152A: 319-326, 2010. [PubMed: 20082458]
    The haploinsufficiency of the Quaking gene (QK1) plays a role in the 6q- phenotype.
    Aberration: ST,TD
    Chromosomal Aneuploidy: 6q-
    Index Terms: Quaking gene (QK1)
  • Bertini V, De Vito G, Costa R, Simi P, Valetto A.: Isolated 6q terminal deletions: An emerging new syndrome. AJMG DOI=10.1002/ajmg.a.31020; 140A:74-81, 2005 and 2006. [PubMed: 16329114]
    46,XY,del(6)(q26-qter). Breakpoint distal to clone RP11-150P20 and proximal to clone RP11-152P19 and the size approximately 8 Mb.
    Patient 1 was 2 years old, examined at 7 months for psychomotor retardation.,Patient 2 was 10 years old.
    The breakpoint falls within the fragile site FRA6E.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6q-
  • 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]
    t(6;11)(q26;q22); t(6;12)(q26;q11); t(6;15)(q26;q21).
    Aberration: Reciprocal translocation
    Positive band
  • Brondum-Nielsen K, Bajalica S, Wulff K, Mikkelsen M: Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome. Clin. Genet. 43:235-239, 1993. [PubMed: 8375103]
    46,XX,6q+(inv dup q26-q27).
    The 2 years 3 month old patient with MCA/MR was studied.
    Aberration: Duplication
    Chromosomal Aneuploidy: 6q+
    Positive band
  • Daniel A, Ekblom L, Phillips S: Constitutive fragile sites 1p31, 3p14, 6q26, and 16q23 and their use as controls for false-negative results with the fragiles(X). AJMG 18:483-491, 1984. [PubMed: 6476008]
    It has been found that this site, ie 6q26, is not suitable for use as a control site for the FUdR effect.
    Aberration: Fragile sites
    Positive band
  • Hoo J J: Routine application of high resolution chromosome analysis. AJMG 24:533-537, 1986. [PubMed: 3728572]
    A boy with multiple congenital anomalies was karyotyped.
    Aberration: Terminal deletion
    Positive band
  • Leversha M A, Webb G C, Pavey S M: Chromosome banding required for studies on X-linked mental retardation. Lancet 1:49, 1981. [PubMed: 6109088]
    fra(6)(q26) and fra(X)(q27).
    Aberration: Fragile sites
    Positive band
  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: High resolution G-banding
    Positive band
  • McLeod D R, Fowlow S B, Robertson A, Samcoe D, Burgess I, Hoo J J: Chromosome 6q deletions: a report of two additional cases and a review of the literature. AJMG 35:79-84, 1990. [PubMed: 2405671]
    Patient 1.
    46,XY,del(6)(pter -> q26:)de novo.
    The association of retinal abnormalities in 6q deletions is supported.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: Retinal ... abnormalities
    Positive band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Smeets D, Verhagen A, Hustinx T W J: Familial and individual variation in chromosome fragility. Mut. Res. 212:223-229, 1989. [PubMed: 2499778]
    Aberration: Fragile sites
    Positive band
  • Turleau C, de Grouchy J: Trisomy 6qter. Clin. Genet. 19:202-206, 1981. [PubMed: 7273465]
    Patient 290467, observation No. 3494 was 18 months old. After reviewing 9 patients with 6q trisomy, the authors reported that 6q trisomy syndrome features include severe mental and growth retardation; acrocephaly and brachycephaly; carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.
    Aberration: Simple translocation
    Index Terms: Brachycephaly,Joints ... anomalies,Micrognathia,Mouth ... carp-fish-shaped,Neck ... short,Turricephaly ... acrocephaly
    Positive band
  • 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
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105625


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