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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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  • Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia M C, Priolo E, Lagana C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E.: Reciprocal translocations: a trap for cytogeneticists? Hum. Genet. DOI=10.1007/s00439-005-1324-x; 117:571-582, 2005. [PubMed: 16041583]
    Patient 4 (PC):
    Initial=46,XY,t(7;10)(p12.1;q26.3)pat.,Revised=46,XY,t(7;10),with partial trisomy 10q21.1->10q23.31 region (31 Mb) as a consequence of a paternal recombination between the normal chromosome 10 and the der(10)..
    The 3 year-old was referred for psychomotor retardation, short stature and dysmorphic features.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10q+
  • Joyce C A, Sharp A, Walker J M, Bullman H, Temple I K.: Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum. Genet. 105:273-280, 1999. [PubMed: 10987657]
    Case 1, LB, was referred at 6 years of age because of extreme short stature and a possible diagnosis of SRS. Mother,TB also had short stature (150cm), microcephalic, thin tubular nose, short philtrum and thin upper lip.
    TB=46,XX,dup(7)(p13p12.1)de novo.,LB=46,XX,der dup(7)(p13p12.1)mat.ish dup(7)(946H08+,810G02++,896D09+).
    Aberration: Duplication
    MIM#: 180860
    Chromosomal Aneuploidy: 7p+
    Index Terms: Silver-Russell syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105684


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