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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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  • Boue J, Boue A, Deluchat C, Perraudin N, Yvert F: Identification of C trisomies in human abortuses. J. Med. Genet. 12:265-268, 1975. [PMC free article: PMC1013287] [PubMed: 1177277]
    Case Nos. 1233 and 1595 in this report.
    Frozen cell lines were thawed out and reidentified by Giemsa banding techniques.
  • Brizot M L, Schultz R, Patroni L T, Lopes L M, Armbruster-Morales E, Zugaib M.: Trisomy 10: ultrasound features and natural history after first trimester diagnosis. Prenat. Diag. 21:672-675, 2001. [PubMed: 11536269]
    47,XY,+10.
    The findings were nuchal translucency, micrognathia, renal agenesis, facial cleft, limb abnormalities, cardiac defects, and early severe growth retardation.
  • 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 fertization (IVF) and intracytoplasmic sperm injection (ICSI). Europ. J. Obstet. Gynecol. Reprod. Biol. 105:44-48, 2002. [PubMed: 12270564]
    47,XY,+10
    Index Terms: ICSI,IVF
  • de France H F, Beemer F A, Senders R Ch, Schaminee-Main S C E: "Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome." Clin. Genet. 27:92-96, 1985. [PubMed: 3978842]
    Patient T. H.:mos46,XY/47,XY,+10.
    Trisomy 10 mosaic syndrome characteristics include high forehead, hypertelorism, mongoloid eye slant, blepharophimosis, dysplastic, large ears, retrognathia, long slender trunk, marked plantar and palmer furrows, cardiopathy and early death.
    Index Terms: Blepharophimosis,Ears ... dysplastic,Ears ... large,Eye ... mongoloid eye slits,Forehead ... high, convex,Hypertelorism
  • Ebrahim S A, Mohamed A N, Lee H, Qureshi F, Johnson A, Evans M I.: Full term pregnancy after diagnosis of non-mosaic trisomy 10 by amniotic fluid: ultrasound, cytogenetic and morphologic findings. AJHG 67 (Suppl. 2):144, 2000.
    47,XX,+10[20].
    The authors claim that this is the first report of a non-mosaic case of trisomy 10 detected by amniocentesis that was carried to full term (a still-born at 42 weeks). Multiple anomalies were noted by ultrasound.
  • Farrell S A, Sue-Chue-Lam A, Miskin M, Fan Y S: Fetal nuchal oedema and antenatal diagnosis of trisomy 10. Prenat. Diag. 14:463-467, 1994. [PubMed: 7937583]
    47,XX,+10.
    Pregnancy was terminated at 15 weeks.
    Index Terms: Nuchal ... oedema, fetal
  • 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]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Jones C, Booth C, Rita D, Jazmines L, Spiro R, McCulloch B, McCaskill C, Shaffer L G.: Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism. Prenat. Diag. 15:843-848, 1995. [PubMed: 8559755]
    Shaffer L G, McCaskill C, Adkins K, Hassold T J.: Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. AJMG 79:366-372, 1998. [PubMed: 9779803]
    No case of a UPD for any chromosome was found in the 18 fetuses studied in 1998.
    mos46,XY(Amniotic fluid and cultured CVS cells)/47,XY,+10(Direct CVS cells).
    Mother was 41 years old and there was polyhydramnios.
    Index Terms: UPD ... confined placental mosaicism
  • Knoblauch H, Sommer D, Zimmer C, Tennstedt C, Heling K, Bollmann R, Bommer C, Tinschert S, Korner H.: Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy. Prenat. Diag. 19:379-382, 1999. [PubMed: 10327147]
    mos47,XY,+10/46,XY confirmed in several tissues after detection in CVS.
    Growth retardation, a large hygroma of the neck, severe micro- and retrognathia, prominent nose and forehead, low-set ears, and a long and slender trunk were some of the anomalies detected in this 13 week fetus.
  • Leschot N J, Wolf H: Is placental mosaicism associated with poor perinatal outcome? Prenat. Diag. 11:403-404, 1991. [PubMed: 1924181]
    46,XY/47,XY,+10.
    A perinatal loss due to a congenital heart malformation.
  • Nakagome Y, Iinuma K, Matsui I: Trisomy 10 with mosaicism. A clinical and cytogenetic entity. Jpn. J. Hum. Genet. 18:216-219, 1973. [PubMed: 4797432]
    46,XY/47,XY,+10.
  • Qazi Q H, Masakawa A, Madahar C, Ehrlich R: Trisomy 10 mosaicism in a female infant. Ped. Res. 10:370, 1976.
    46,XX/47,XX,+10.&The findings in the patient were mongoloid slanted eyes, microphthalmia, blepharophimosis, low-set malformed ears, narrow high arched palate, retromicrognathia, absent fifth sacral segment, right pelvic kidney, congenital heart disease and failure -> thrive. Trisomic cells were present in 33% of cells.
    Index Terms: Blepharophimosis,Congenital heart defects (cardiovascular anomalies),Ears ... low-set malformed,Eye ... microphthalmia,Eye ... mongoloid eye slits,Microphthalmia,Microretrognathia,Palate ... high arched,Palate ... narrow
  • 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]
    10 of these were found.
  • Robinson W P, Barrett I J, Bernard L, Telenius A, Bernasconi F, Wilson R D, Best R G, Howard-Peebles P N, Langlois S, Kalousek D K.: Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. AJHG 60:917-927, 1997. [PMC free article: PMC1712477] [PubMed: 9106539]
    Two cases are reported: 91.69 and 91.89.
    Index Terms: CPM
  • 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]
    12/89 cases:
    47,XX,+10 and 47,XY,+10.
    Index Terms: CPM,Imprinting
  • Saint-Rome G, Gagnon J, Jelin G, Duhaime M: La trisomie C libre homogene et en mosaique. L''Union Med. Can. 101:2121-2129, 1972. [PubMed: 4642700]
    47,XX,+10.&Two patients with a probable trisomy for chromosome 10 are described, one of which was a mosaic.
  • Vianello M G, Gemme G, Bonioli E, Olivo F: Trisomy of chromosome No. 10 in mosaic. J. Genet. Hum. 26:185-191, 1978. [PubMed: 670946]
    Patient G. C. 180276 in this report. Patient died after 6 months.
    mos 46,XY/47,XY,+10.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106820
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