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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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01q242

1q24.2
  • Chaabouni M, Martinovic J, Sanlaville D, Attie-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N.: Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2006.03.004, 2006. [PubMed: 17142120]
    46,XY.ish del(1)(q24.2q25.2)(RP11-98F1+, RP11-137M19+, RP11-403P14+, RP11-193J5+, RP11-332H17-, RP5-932N9-, RP11-177A1-, RP11-162L13+, RP11-173E24+).
    The 28 week fetus had abnormal MSAFP and ultrasound findings. Fetus autopsy showed an intrauterine growth retardation, dysmorphic features and limbs abnormalities.
    Two markers D1S2851 and D1S218 were deleted in the fetus and the deletion was found to be of paternal origin.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
  • Reed T, Milatovich A: Dermatoglyphic findings in chromosome 1 long arm deletions. AJMG 29:685-689, 1988. [PubMed: 3377014]
    Patient 2 was 10 months old.
    46,XX,del(1)(q24.2q31.2).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106819

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