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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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  • Bartels I, Hansmann I: Trisomy 4 due to nondisjunction during maternal meiosis II. Clin. Genet. 30:142, 1986. [PubMed: 3757306]
    Spontaneously aborted fetus, after 12 weeks of gestation of a 32 year old mother, was studied.
    47,XX,+4.
  • Brady A N, May K M, Fernhoff P M.: Mosaic trisomy 4: long-term outcome on the first reported liveborn. AJMG 132A:411-413, 2005. [PubMed: 15633177]
    Hsu L Y F, Yu M T, Neu R L, Van Dyke D L, Benn P A, Bradshaw C L, Shaffer L G, Higgins R R, Khodr G S, Morton C M, Wang H, Brothman A R, Chadwick D, Disteche C M, Jenkins L S, Kalousek D K, Pantzar T J, Wyatt P.: Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat. Diag. 17:201-242, 1997. [PubMed: 9110367]
    Marion J P, Fernhoff P M, Korotkin J, Priest J H: Pre- and postnatal diagnosis of trisomy 4 mosaicism. AJMG 37:362-365, 1990. [PubMed: 2260566]
    Patient NJ.
    mos46,XX/47,XX,+4.
  • Byrne J, Warburton D, Kline J, Blanc W, Stein Z: Morphology of early fetal deaths and their chromosomal characteristics. Teratology 32:297-315, 1985. [PubMed: 4049288]
  • Causio F, Fischetto R, Sarcina E, Geusa S, Tartagni M.: Chromosome analysis of spontaneous abortions after in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Europ. J. Obstet. Gynecol. Reprod. Biol. 105:44-48, 2002. [PubMed: 12270564]
    47,XX,+4
    Index Terms: ICSI,IVF
  • Hassold T J, Matsuyama A: Origin of trisomies in human spontaneous abortions. Hum. Genet. 46:285-294, 1979. [PubMed: 155642]
    Hassold T J, Matsuyama A, Newlands I M, Matsuura J S, Jacobs P A, Manuel B, Tsuei J: A cytogenetic study of spontaneous abortions in Hawaii. Ann. Hum. Genet. 41:443-454, 1978. [PubMed: 655633]
    Hassold T J, Warburton D, Kline J, Stein Z: The relationship of maternal age and trisomy among trisomic spontaneous abortions. AJHG 36:1349-1356, 1984. [PMC free article: PMC1684653] [PubMed: 6517056]
    Chromosome heteromorphisms of 34 trisomic abortuses and their parents were compared to determine the origin of the extra chromosome. Fourteen of the trisomies were maternal in origin, ten resulting from a first-meiotic-division error and four from either first- or second-meiotic-division errors. No paternally derived trisomy was identified. Of the 33 abortuses studied, trisomy 16, with ten cases, was the most frequent. The remaining abortuses consisted of three cases of trisomy 4, one of trisomy 9, two of trisomy 13, two of trisomy 14, five of trisomy 15, one of trisomy 21, eight of trisomy 22, and one double trisomy (+21+22). In one trisomy, only the mother was available for cytogenetic study.
    Index Terms: Down syndrome (Trisomy 21),Fetal wastage (Habitual recurrent, spontaneous abortion),Patau syndrome (trisomy 13)
  • Kalousek D K, Barrett I J, Gartner A B: Spontaneous abortion and confined chromosomal mosaicism. Hum. Genet. 88:642-646, 1992. [PubMed: 1551667]
    mos46,XX/47,XX,+3.
    Index Terms: Mosaicism
  • Lin C C, De Braekeleer M, Jamro H: Cytogenetic studies in spontaneous abortion: the Calgary experience. Canad. J. Genet. Cytol. 27:565-570, 1985. [PubMed: 4063875]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Minelli E, Buchi E, Granata P, Meroni E, Righi R, Portentoso P, Giudici A, Ercoli A, Sartor M G, Rossi A, Fasola M, Campagna C, Casalone R: Cytogenetic findings in echographically defined blighted ovum abortions. Ann. Genet. 36:107-110, 1993. [PubMed: 8215215]
    52 spontaneous blighted ovum abortions were studied.
    Index Terms: Blighted ovum abortions
  • Risch N, Stein Z, Kline J, Warburton D: The relationship between maternal age and chromosome size in autosomal trisomy. AJHG 39:68-78, 1986. [PMC free article: PMC1684020] [PubMed: 3752082]
    13 of these were found.
  • Robinson W P, Bernasconi F, Lau A, McFadden D E.: Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. AJMG 84:34-42, 1999. [PubMed: 10213044]
    9/89 cases:
    47,XX,+4 and XY,+4.
    Index Terms: CPM,Imprinting
  • Van Allen M I, Ritchie S, Toi A, Fong K, Winsor E: Trisomy 4 in a fetus with cyclopia and other anomalies. AJMG 46:193-197, 1993. [PubMed: 8484409]
    47,XX,+4.
    A routine ultrasound at 18 weeks post-LMP identified a fetus with holoprosencephaly, cycolpia with a single orbit, cystic hygroma, and other anomalies.
    Index Terms: Cyclop(ia)(s),Holoprosencephaly,Cystic hygroma
  • Zaslav A-L, Blumenthal D, Willner J P, Pierno G, Jacob J, Fox J E.: prenatal diagnosis of trisomy 4 mosaicism. AJMG 95:381-384, 2000. [PubMed: 11186894]
    Amniotic fluid=3/33 cells were 47,XY,+4.,FISH showed 6/252 nuclei had 3 signals.,Various other tissues showed normal 46,XY cells [233].
    The child is developing normally at the age of 12 months.
  • Zergollern L, Lasan R: Cytogenetics of spontaneous abortions. Acta Med. (Yugoslavia) 36:107-113, 1982. [PubMed: 7113736]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105985

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