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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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09q212

9q21.2
  • Kajii T, Matsuura S, Murano I, Kuwano A: Inverted insertion (9)(q34.3q22.3q21.2) and its recombination product: duplication 9q21.2q22.3. Jpn. J. Hum. Genet. 32:45-48, 1987.
    A family is reported which may be related to the reported by Narahara et al., (1986) as having a direct insertion (9)(q34.3q22.1q31.3). Proband V-4 was 2 years old.
    A maternal distant relative III-5 was 45 years old with the same dup 9q chromosome.
    46,XX or XY,inv ins(9)(q34.3q22.3q21.2).&46,XX,-9<+der(9) dup(q) inv ins(9)(pter -> q34.3::q22.3 -> q21.2::q34.3 -> qter).
    Aberration: Inverted insertions within a chromosome
    Chromosomal Aneuploidy: 9q+
    Negative band
  • Same entry as in 03q270,05p130 (Warburton D, 1991).
  • 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]
    46,XY,inv(9)(q21.2q34).
    Aberration: Inversion paracentric
    Negative band
  • Ravnan J B.: Ascribe the simplest interpretation. AJMG 100:84, 2001. [PubMed: 11337755]
    Wyandt H E, Lebo R V, Fenerci E Y, Sadhu D N, Milunsky J M.: Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy. AJMG 93:305-312, 2000. [PubMed: 10946358]
    Wyandt H E.: Reported tandem duplication/deletion of 9q is actually an inverted duplication. AJMG 100:82-83, 2001. [PubMed: 11337754]
    47,XX,+der(9)dup(9)(pter->q21.2)del(9)(qter->q21.2).ish der(9)(WCP9+,D9Z1x2,STP9q-,AHT+).
    A 19-week stillborn fetus with bilateral cleft palate, horseshoe kidney, bicornuate uterus, low-set ears, and intrauterine growth retardation was karyotyped.
    Tetrasomic for 9pter->9q21.2 and disomic for 9q21.2->qter.
    Aberration: Duplication
    Chromosomal Aneuploidy: 9p+;9q+
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106626
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