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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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  • Butler M G.: Trisomy 17 mosaicism in a four-year seven-month old white girl: follow-up report. Prenat. Diag. 19:689, 1999. [PubMed: 10419623]
    Normal physical and psychomotor development in this patient.
  • Collado F K, Fisher A J, Bombard A T.: Counseling patients with trisomy 17 mosaicism found at genetic amniocentesis. Prenat. Diag. DOI=10.1002/pd.714; 23:948-950, 2003. [PubMed: 14634987]
    Amnio at 17 weeks: 1st culture=47,XX,+17[18]/46,XX[2]; 2nd culture=46,XX[24].,Amnio at 20 weeks:Cultured amnio=47,XX,+17[3]/46,XX[37].,Cord blood at birth=46,XX.
    At 36 weeks preeclampsia and oligohydramnios was noted and labor was induced.
  • Djalali M, Barbi G, Grab D: Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn. Prenat. Diag. 11:399-402, 1991. [PubMed: 1924180]
    Djalali M, Barbi G, Mueller-Navia J, Schneider M, Tettenborn U, Trautmann U, Ulmer R, Wolf M, Vogel W.: Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures. Prenat. Diag. 18:1191-1194, 1998. [PubMed: 9854731]
    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]
    Case 1:
    Amniotic fluid (specimen 1)=mos47,XY,+17[4]/46,XY[90].,Amniotic fluid (specimen 2)=ish confirmed trisomy at 9%.,Newborn blood=46,XY.
    Normal at age of 30 months.
    Case 2:
    Amniotic fluid=47,XY,+17[10]/46,XY[99].,Normal in all other tissues.
    Case ascertained because of exposure to radiation and anxiety. Ultrasound examination was normal. Normal at age of 2 years.
    Case 3:
    Amniotic fluid, flask=47,XX,+17[4]/46,XX[33].,In situ=47,XX,+17[6]/46,XX[19].
    Case ascertained because of advanced maternal age. Normal at age of 4 years.
  • Genuardi M, Tozzi C, Pomponi M G, Stagni M L, Monica M D, Scarano G, Calvieri F, Torrisi L, Neri G.: Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies. Europ. J. Hum. Genet. 7:421-426, 1999. [PubMed: 10352932]
    Three cases are presented.
    mos47,XX or XY,+17/46,XX or XY.
    Case 1 was normal girl at 2 1/2 years; case 2 was a normal boy at age 2 years, and case 3 was found to have minor developmental anomalies at fetal autopsy.
    Case 2 had m(UPD17).
  • 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)
  • Johnson M P, Drugan A, Uhlmann W R, Evans M I: Postmortem chorionic villus sampling is a better method for cytogenetic evaluation of early fetal loss than culture of abortus material. Am. J. Obst. Gynecol. 163:1505-1510, 1991. [PubMed: 2240097]
    Index Terms: Postmortem CVS
  • Kingston H M, Nicolini U, Haslam J, Andrews T: 46,XY/47,XY,+17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype. Prenat. Diag. 13:637-642, 1993. [PubMed: 8415429]
    mos46,XY(96.7%)/47,XY,+17p+(3.3%)-amniocytes.&mos46,XY(34%)/47,XY,+17p+(66%)-placenta.&mos46,XY(12 -> 72%)/47,XY,+17p+(28 -> 88%)-various fetal tissues.&46,XY-fetal blood.
    Ultrasonography revealed Dandy-Walker malformation and bilateral choroid plexus cysts. Fetal examination revealed post-axial polydactyly and neuroblastoma-in-situ affecting both adrenals in addition to the cerebellar abnormalities.
    MIM#: 220220
    Chromosomal Aneuploidy: 17+
    Index Terms: Dandy-Walker ... malformation,Choroid plexus cysts,Polydactyly ... post-axial,Neuroblastoma-in-situ
  • Lesca G, Boggio D, Bellec V, Magaud J-P, Till M.: Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts. Prenat. Diag. 19:263-265, 1999. [PubMed: 10210127]
    Twin 1 was normal 46,XY.
    Twin was normal. Twin 2 had MCA including congenital heart defects.
    Twin 2-AF=47,XY,+17[7]/46,XY[43].,Lymphocytes=46,XY;,Fibroblasts=47,XY,+17[24]/46,XY[1].nuc ish(D17Z1x3).
  • Nassar A H, Chakhtoura N, Martin D.: Update on prenatal diagnosis of true mosaic trisomy 17 in amniocyte cultures. Prenat. Diag. 20:521-5222, 2000. [PubMed: 10861723]
    47,XX,+17[3]/46,XX[11]=amniocytes at 16 weeks.
    Normal karyotype after birth and normal development and phenotype.
  • Ohama K, Kusumi I, Ihara T: Trisomy 17 in two abortuses. Jpn. J. Hum. Genet. 21:257-260, 1977. [PubMed: 559817]
    The induced abortus consisted of an empty chorionic sac with sparse but swollen villi, while the spontaneous abortus had an empty amniotic sac and normally developed villi.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • 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]
    2/89 cases:
    47,XY,+17.
    Index Terms: CPM,Imprinting
  • Roland B, Lynch L, Berkowitz G, Zinberg R: Confined placental mosaicism in CVS and pregnancy outcome. Prenat. Diag. 14:589-593, 1994. [PubMed: 7971761]
    Patient No. 4:
    mos46,XX(23)/47,XX,+17(40).
    A healthy infant was born. The mosaicism was found in cvs culture and amniocytes.
    Index Terms: Confined placental mosaicism (cpm)
  • Shaffer L G, McCaskill C, Hersh J H, Greenberg F, Lupski J R.: A clinical and molecular study of mosaicism for trisomy 17. Hum. Genet. 97: 69-72, 1996. [PubMed: 8557263]
    mos46,XY(49 cells)/47,XY,+17(11 cells)-skin; 46,XY-blood @ 3 years and 8 months.,mos46,XY(4 cells)/47,XY,+17(16 cells)-skin; 46,XY-blood (50 cells) @ 8 years and 8 months.
    Male with MR, seizures, attention deficit hyperactivity and autistic disorders, hearing loss, growth retardation, microcephaly, and minor anomalies.
  • Terhal P, Sakkers R, Hochstenbach R, Madan K, Rabelink G, Sinke R, Giltay J.: Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism. AJMG DOI=10.1002/ajmg.a.30124; 130A:410-414, 2004. [PubMed: 15481034]
    Amnio=mos47,XY,+17[40]/46,XY[20].,Chorionic villi=46,XY[10].,Cord blood=46,XY[50].,Amniotic fluid 2nd=mos47,XY,+17[19]/46,XY[11].,Post partum lymphocytes=46,XY,[50].,Placental biopsies 2=46,XY[45].,Skin fibroblasts-right leg=47,XY,+17[25%];left leg=46,XY,+[69%]
    The main clinical features of the 7 year old boy were MR, growth reduction, peripheral motor ans sensory neuropathy, hypoplastic cerebellar vermis, zonular cataract, and body asymmetry.
    The etxra chromosome 17 probably originated from a postzygotic mitotic nondisjunction of the maternal chromosome 17. No evidence of UPD was found.
    Index Terms: Cerebellar hypoplasia,Zonular cataract
  • Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli R M, Baumer A, Schinzel A, Kotzot D.: Pre- and postnatal findings in trisomy 17 mosaicism. AJMG Part A: DOI=10.1002/ajmg.a.31319; 140A: 1628-1636, 2006. [PubMed: 16802327]
    Four new cases are presented and data on 23 previously reported cases are reviewed.
    46XX/XY/47,XX/XY+17. FISH confirmed trisomy 17 in all of the four cases.
    It was found that in only 5/23 instances mosaicism has been demonstrated in lymphocytes and/or fibroblasts, and in only these have MCA , facial dysmorphisms, and MR have been reported. No consistent phenotype emerges and the clinical significance of trisomy 17 mosaicism in amniocentesis and cvs remains uncertain.
    The trisomy cell line is rarely found in lymphocytes, hence cordocentesis is not indicated.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106092

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