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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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  • Fiegler H, Gribble S M, Burford D C, Carr P, Prigmore E, Porter K M, Clegg S, Crolla J A, Dennis N R, Jacobs P, Carter N P.: Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J. Med. Genet. 40:664-670, 2003. [PMC free article: PMC1735585] [PubMed: 12960211]
    Also see the report of Gribble et al (2006), J. Med. Genet. 44: 51-58, 2007.
    Case 1=46,XY,t(17;22)(q21.1;q12.2)de novo.
    The 2 1/2 year old was being evaluated because he had not developed language. He was born with a coloboma of the left eye and an intermittent convergent squint.
    Chromosome 17 breakpoint lies between clones RP11-94L15 positioned at 39.9 Mb and RP5-1112G21 positioned at 40.7 Mb along the chromosome. Chromosome 22 breakpoint lies between clones CTA-992D9 positioned at 24.2 Mb and RP3-353E16 positioned at 25.) Mb along the chromosome.
    Aberration: Reciprocal translocation
    Index Terms: DNA Microarray painting
  • King P A, Ghosh A, Tang M: Mosaic partial trisomy 17q2. J. Med. Genet. 28:641-643, 1991. [PMC free article: PMC1015800] [PubMed: 1956067]
    mos46,XX(1)/46,XX,-21,+der(21),t(17;21)(q21.1;q22.3)(15)-amniotic fluid.&"mos46,XX(72)/46,XX,-21,+der(21),t(17;21)(q21.1;q22.3)(28)-blood."
    Ultrasound showed polyhydramnios, craniofacial dysmorphology and rhizomelic shortening of the limbs.,The baby died 5 days after birth.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 17q+
    Index Terms: Polyhydramnios
    Negative band
  • Martinet D, Vial Y, Thonney F, Beckmann J S, Meagher-Villemure K, Unger S.: Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity. AJMG DOI=10.1002/ajmg.a.31150; 140A:769-774, 2006. [PubMed: 16523519]
    The pregnancy was terminated after detection of heart defects.
    Parents were first cousins (paternal grandmother and maternal grandfather were siblings) of Kurdish-Turkish origin. No history of miscarriages or children with MCA. They had one 8 year-old healthy son with a normal karyotype.
    Aberration: Reciprocal translocation
    Index Terms: Turkish-Kurdish
  • Serotkin A, Stamberg J, Waber L: Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome. J. Med. Genet. 25:258-260, 1988. [PMC free article: PMC1015509] [PubMed: 3367352]
    mos46,XY/46,XY,dir dup(17)(pter -> q25::q21.1 -> qter).
    Aberration: Direct duplication
    MIM#: 225500
    Chromosomal Aneuploidy: 17q+
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106425


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