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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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  • Banzai M, Sato S, Matsuda H, Kanasugi H.: Trisomy 1 in a case of a missed abortion. J. Hum. Genet. DOI=10.1007/s10038-004-0164-1; 49:396-397, 2004. [PubMed: 15252723]
    47,XX,+1[100].
    The patient (G2P0), was 30 years old and demonstrated a gestational sac and a yolk sac on transvaginal ultrasound. At 53 days of gestation, this pregnancy was lost with a diagnosis of blighted ovum.
  • Dunn T M, Grunfeld L, Kardon N B.: Trisomy 1 in a clinically recognized pregnancy. AJMG 99:152-153, 2001. [PubMed: 11241476]
    47,XY,+1
    At 42 days postfertilization no fetal heart beat could be detected. Cytogenetic analysis of chorionic villi from the POC showed the trisomy in all the cells.
    Index Terms: IVF pregnancy
  • Hanna J S, Shires P, Matile G.: Trisomy 1 in a clinically recognized pregnancy. AJMG 68:98, 1997. [PubMed: 8986286]
    47,XY,+1
    Karyotyping on cultured chorionic villi from a ''D and C'' with a diagnosis of blighted ovum. There was vaginal bleeding and no evidence of a gestational sac on ultrasound at 8.5 weeks of gestation.
  • Howard P J, Cramp C E, Fryer A E.: Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate. Clin. Genet. 48: 313-316, 1995. [PubMed: 8835327]
    mos46,XY/47,XY,+1(3/50 cells in 24 hour blood culture).
    The neonate died at 8 days of age at home and he suffered from recurrent apnoeic episodes.
    All other cultures showed normal 46,XY cells ie 48- and 72- hour blood cultures; fibroblasts.
  • Hrynchak M, Kalousek D K: Mosaic trisomy 1 in a spontaneous abortion. Cytogenet. Cell Genet. 63:251, 1993.
    47,XX,+1-chorion/47,XX,+mar.
  • Watt J L, Templeton A A, Messinis I, Bell L, Cunningham P, Duncan R O: Trisomy 1 in an eight cell human pre-embryo. J. Med. Genet. 24:60-64, 1987. [PMC free article: PMC1049857] [PubMed: 3806641]
    Material from an in-vitro fertilization program (IVF) was studied.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105503

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