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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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  • Abu-Amero S N, Ali Z, Abu-Amero K K, Stanier P, Moore G E.: An analysis of common isodisomic regions in five mUPD 16 probands. J. Med. Genet. 36:204-207, 1999. [PMC free article: PMC1734327] [PubMed: 10204845]
    Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G: Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat. Diag. 14:751-756, 1994. [PubMed: 7527540]
    In the 5 cases studied in 1999, in each case the aberration was consistent with maternal MI error.
    Two cases with abnormal fetal development and mosaicism are documented.
    mos46,XX or XY/47,XX or XY,+16.
    Both babies had imperforate anus.
    Index Terms: UPD,Imperforate anus
  • Astner A, Schwinger E, Caliebe A, Jonat W, Gembruch U.: Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature. Prenat. Diag. 18:1308-1315, 1998. [PubMed: 9885025]
    Index Terms: CPM
  • Benn P.: Trisomy 16 and trisomy 16 mosaicism: a review. AJMG 79:121-133, 1998. [PubMed: 9741470]
  • Boue J, Daketse M J, Deluchat C, Ravise N, Yvert F, Boue A: Q and G banding techniques in the identification of chromosome anomalies in spontaneous abortions. Ann. Genet. 19:233-239, 1976. [PubMed: 1087852]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • 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]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Clouston H J, Fenwick J, Webb A L, Herbert M, Murdoch A, Wolstenholme J.: Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts. Hum. Genet. 101:30-36, 1997. [PubMed: 9385365]
    2/73 specimen analyzed were non-mosaic trisomy 16.
    Index Terms: Blastocysts
  • Cusick W, Bork M, Fabri B, Benn P, Rodis J F, Buttino L, Jr.: Trisomy 16 fetus surviving into the second trimester. Prenat. Diag. 15:1078-1081, 1995. [PubMed: 8606889]
    Patient K.B.
    47,XY,+16.
    Anhydramnios was noted at 14 weeks following a size/date discrepancy. Multiple fetal anomalies including heart defect, chest hypoplasia, and bilateral dysplastic kidneys were noted at a detailed ultrasound examination. The pregnancy was electively terminated.
  • Daniel A, Wu Z, Darmanian A, Malafiej P, Tembe V, Peters G, Kennedy C, Ades L.: Issues arising from the prenatal diagnosis of some rare trisomy mosaics--the importance of cryptic fetal mosaicism. Prenat. Diag. 24:524-536, 2004. [PubMed: 15300743]
    3 cases of mosaic trisomy 16 (two of which were CPM), and single cases of mosaic trisomies of 8, 9, 10, 11, 12, 14, 5 and 15--the last two being CPM.
    Index Terms: CPM
  • Devi A S, Velinov M, Kamath M V, Eisenfeld L, Neu R, Ciarleglio L, Greenstein R, Benn P: Variable clinical expression of mosaic trisomy 16 in the newborn infant. AJMG 47:294-298, 1993. [PubMed: 8213923]
    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]
    Patient C.O.
    mos46,XX(2)/47,XX,+16(50)-amniotic fluid.&mos46,XX(99)/47,XX,+16(1)-skin left side.&mos46,XX(91)/47,XX,+16(9)-skin right side.&46,XX-blood.
    Patient, with MCA, died at 11 days of age.
    Caution is advised in deciding mosaicism and its consequences.
    Index Terms: Mosaicism
  • De Vita R, Calugi A, Cavallo D, Eleuteri P, Vizzone A: Flow cytometric and cytogenetic analyses in human spontaneous abortions. Hum. Genet. 91:409-415, 1993. [PubMed: 8314552]
    38 examined but 19 were not studied.
    2 cases of trisomy 16.
    10 had normal karyotypes.
    Index Terms: Cytometr(ic)
  • Dhadial R K, Machin A M, Tait S M: Chromosomal anomalies in spontaneously aborted human fetuses. Lancet 1:20-21, 1970. [PubMed: 4193753]
    47,XX or XY,+16.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Dominguez S A, Be C, Ayarza E, Montenegro M A.: Placentae of fetuses with chromosome 16 trisomy: a morphometric analysis of the interchange chorionic villi. Med. Sci. Res. 26:507-509, 1998.
    Late trisomic villi had a smaller area and the chorionic mesenchyma showed lower collagen and cell density.
  • Fritz B, Hallermann C, Olert J, Fuchs B, Bruns M, Aslan M, Schmidt S, Coerdt W, Muntefering H, Rehder H.: Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions. Europ. J. Hum. Genet. 9:539-547, 2001. [PubMed: 11464246]
    Trisomy rate was 68% and of 16 32.1%.
    In 57/60 cases CGH was successful. It is suggested that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.
    Index Terms: CGH
  • Fryburg J S, Dimaio M S, Mahoney M J: Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: a possible association with intrauterine growth retardation and elevated maternal serum alpha-fetoprotein. Prenat. Diag. 12:157-162, 1992. [PubMed: 1375377]
    Index Terms: Placenta ... mosaicism
  • Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu W T, Oeztas S, Pepkowitz S, Graham J M, Jr: Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat. Diag. 14:257-266, 1994. [PubMed: 8066035]
    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, RF:
    mos46,XY/47,XY,+16 (placenta and skin).&46,XY (umbilical artery and fascia).
    mos46,XY (20 colonies)/47,XY,+16 (5 colonies)(amniotic fluid).,Fetal anomalies were noted at 23 weeks.
    Case 2, CM:
    mos46,XX (28 cells)/47,XX,+16 (3 cells) (amniotic fluid).&mos46,XX (96% of colonies)/47,XX,+16 (4% of colonies) (amniotic fluid).&47,XX,+16 (17/17 direct cells from placenta).
    After caesarean section at 32 weeks the baby showed MCA at birth and died after 2 weeks.
  • Greally J M, Neiswanger K, Cummins J H, Boone L Y, Lenkey S G, Wenger S L, Lewis J L, Fischer D, Paul R A, Steele M W.: A molecular anatomical analysis of mosaic trisomy 16. Hum. Genet. 98:86-90, 1996. [PubMed: 8682514]
    mos47,XX,+16/46,XX.
    The one-month old child presented with aortic coarctation and had a left single palmar crease and proportionate growth delay.
    Molecular analysis showed both maternal 16s to be present in the trisomic cells but maternal heterodisomy was not present in the diploid cells.
  • Griffin D K, Millie E A, Redline R W, Hassold T J, Zaragoza M V.: Cytogenetic analysis of spontaneous abortions: comparison of techniques and assessment of the incidence of confined placental mosaicism. AJMG 72:297-301, 1997. [PubMed: 9332658]
    ID No. 200:
    Cytotrophoblast (direct)=mos46,XY(3)/47,XY,+16(9).,Extraemb mesoderm (culture)=47,XY,+16(20).
    Index Terms: Confined Placental Mosaicism
  • Groli C, Cerri V, Tarantini M, Bellotti D, Jacobello C, Gianello R, Zanini R, Lancetti S, Zaglio S.: Maternal serum screening and trisomy 16 confined to the placenta. Prenat. Diag. 16:685-689, 1996. [PubMed: 8878276]
    5 cases were detected in a screening program of 6614 consecutive cases.
    Pregnancies were complicated by fetal growth retardation and one by intrauterine death, elevated levels of hCG and 4/5 had raised AFP.
    Index Terms: CPM
  • Hajianpour M J.: Postnatally confirmed trisomy 16 mosaicism: follow-up on a previously reported patient. Prenat. Diag. 15:877-879, 1995. [PubMed: 8559764]
    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]
  • Hashish A F, Monk N A, Lovell-Smith M P F, Bardwell L M, Fiddes T M, Gardner R J M: Trisomy 16 detected at chorion villus sampling. Prenat. Diag. 9:427-432, 1989. [PubMed: 2762234]
    Placenta:47,XY,+16; and mos46,XY/47,XY,+16?
    Fetal phenotype was normal.
  • Hassold T J: A cytogenetic study of repeated spontaneous abortions. AJHG 32:723-730, 1980. [PMC free article: PMC1686106] [PubMed: 7424911]
    Hassold T J, MacLean C: Temporal changes in chromosome abnormality rate in human spontaneous abortions: evidence for an association between sex-chromosome monosomy and trisomy 16. Cytogenet. Cell Genet. 38:200-205, 1984. [PubMed: 6541559]
    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)
  • Hassold T, Merrill M, Adkins K, Freeman S, Sherman S.: Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. AJHG 57: 867-874, 1995. [PMC free article: PMC1801507] [PubMed: 7573048]
    Hassold T J, Pettay D, Freeman S B, Grantham M, Takaesu N: Molecular studies of non-disjunction in trisomy 16. J. Med. Genet. 28:159-162, 1991. [PMC free article: PMC1016797] [PubMed: 2051452]
    62 cases were studied.
    Errors at maternal meiosis I were responsible for non-disjunction. There was diminished recombination in the proximal regions.
  • Henderson D J, Bennett P R, Rodeck C H, Gau G S, Blunt S, Moore G E: Trophoblast from anembryonic pregnancy has both a maternal and a paternal contribution to its genome. Am. J. Obtet. Gynecol. 165:98-102, 1991. [PubMed: 1853926]
    14 anembyonic pregnancies were studied. One case of trisomy 16 was found.
    47,XX,+16.
    Index Terms: Anembryonic pregnancy
  • Henderson K G, Shaw T E, Barrett I J, Telenius A H P, Wilson R D, Kalousek D K.: Distribution of mosaicism in human placentae. Hum. Genet. 97:650-654, 1996. [PubMed: 8655147]
    About 2% of pregnancies studied from multiple placental biopsies showed CPM.

    Kalousek D K, Barrett I J, Gartner A B: Spontaneous abortion and confined chromosomal mosaicism. Hum. Genet. 88:642-646, 1992. [PubMed: 1551667]
    Langlois S, Yong P J, Yong S L, Barrett I, Kalousek D K, Miny P, Exeler R, Morris K, Robinson W P.: Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat. Diag. DOI=10.1002/pd.1457; 26: 548-558, 2006. [PubMed: 16683298]
    Lestou V S, Lomax B L, Barrett I J, Kalousek D K.: Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization. Teratology 59:325-330, 1999. [PubMed: 10332958]
    Stavropoulos D J, Bick D, Kalousek D K.: Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism. AJHG 63:1912-1914, 1998. [PMC free article: PMC1377663] [PubMed: 9837845]
    Yong P J, Barrett I J, Kalousek D K, Robinson W P.: Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J. Med. Genet. 40:175-182, 2003. [PMC free article: PMC1735382] [PubMed: 12624135]
    Yong et al studied 162 cases.
    Majority of the cases have a good postnatal outcome. However, the finding of mosaicism on AF and the presence of major congenital anomalies are associated with an increased risk of developmental delay.
    Langlois et al collected data from all published cases and unpublished data from the author''s lab, on children more than 1 year old were collected. 19 cases were from CVS and 17 from amniocentesis.
    mos46,XX and XY/47,XX and XY,+16.
    Index Terms: Mosaicism,CGH
  • Hsu W-T, Shchepin D A, Mao R, Berry-Kravis E, Garber A P, Fischel-Ghodsian N, Falk R E, Carlson D E, Roeder E R, Leeth E A, Hajianpour M J, Wang J-C C, Rosenblum-Vos L S, Bhatt S D, Karson E M, Hux C H, Trunca C, Bialer M G, Linn S K, Schreck R R.: Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. AJMG 80:473-480, 1998. [PubMed: 9880211]
    5 were liveborn, and had some combination of IUGR, CHD or minor anomalies. Of the 6 terminated pregnancies, 4 had MCA and/or IUGR.
  • Ikeuchi T, Sasaki M: An abortus with a normal/trisomy 16 mosaicism: Instability of trisomic cells in vitro. Humangenetik 30:167-171, 1975. [PubMed: 1193603]
    46,XX/47,XX,+16.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Jamieson M E, Coutts J R T, Connor J M: The chromosome constitution of human preimplantation embryos fertilized in vitro. Hum. Reprod. 9:709-715, 1994. [PubMed: 8046027]
    Index Terms: Preimplantation embryos
  • Johnson P, Duncan K, Blunt S, Bell G, Ali Z, Cox P, Moore G E.: Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report. Prenat. Diag. 20:417-421, 2000. [PubMed: 10820412]
  • Kalousek D K, Langlois S, Barrett I, Yam I, Wilson D R, Howard-Peebles P N, Johnson M P, Giorgiutti E: Uniparental disomy for chromosome 16 in humans. AJHG 52:8-16, 1993. [PMC free article: PMC1682104] [PubMed: 8434609]
    Lau A W, Brown C J, Penaherrera M, Langlois S, Kalousek D K, Robinson W P.: Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. AJHG 61:1353-1361, 1997. [PMC free article: PMC1716095] [PubMed: 9399909]
    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]
    Yong P J, Marion S A, barrett I J, Kalousek D K, Robinson W P.: Evidence for imprinting on chromosome 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies. AJMG DOI=10.1002/ajmg.10702;112:123-132, 2002. [PubMed: 12244544]
    Yong et al concluded that upd(16) is associated with more severe growth restriction, and possibly, with higher risk of malformation.
    28 cases were studied.
    13 were UPD.
    Index Terms: UPD,Skewed X-inactivation
  • Kalousek D, Barrett I: Confined placental mosaicism and stillbirth. Pediat. Path. 14:151-159, 1994. [PubMed: 8159612]
    Kalousek D K, Vekemans M: Confined placental mosaicism. J. Med. Genet. 33: 529-533, 1996. [PMC free article: PMC1050657] [PubMed: 8818935]
    The authors state "....include cytogenetic studies of both fetus and placenta in autopsy examination of any unexplained stillbirth."
    Index Terms: Stillbirth
  • Kim K S.: Genetic counseling for confined placental mosaicism: a case report. J. Genet. Counsel. 7:187-194, 1998. [PubMed: 26141251]
    Amniotic fluid=mos47,XY,+16[2]/46,XY[23].,Amniotic fluid=mos47,XY,+16[8]/46,XY[16].,Amnion and chorion=47,XY,+16.,Placenta=mos47,XY,+16[84]/46,XY[16].,Lung, skin, and gut=46,XY.
    Case ascertained because of prenatal diagnosis for advanced maternal age.
    Pregnancy was terminated after PROM.
    Index Terms: CPM
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
  • Kyaosaar M E: A cytogenetic study of spontaneous abortions. Genetika 8:158-160, 1972.
    47,XY,+16.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Lauritsen J G, Friedrich U: Origin of the extra chromosome in trisomy 16. Clin. Genet. 10:156-160, 1976. [PubMed: 963905]
    Lauritsen J G, Jonasson J, Therkelsen A J, Lass F, Lindsten J, Petersen G B: Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes. Hereditas 71:160-163, 1972. [PubMed: 4680642]
    47,XX and XY,+16.
    Seven and two of the 22 cases studied were due to nondisjunction in the mother and father respectively. Seven and two cases were first and second meiotic division errors respectively.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Leschot N J, Wolf H: Is placental mosaicism associated with poor perinatal outcome? Prenat. Diag. 11:403-404, 1991. [PubMed: 1924181]
    46,XX/47,XX,+16.
    Two pregnancies ended in spontaneous abortions.
  • 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)
  • Lindor N M, Jalal S M, Thibodeau S N, Bonde D, Sauser K L, Karnes P S: "Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16." Clin. Genet. 44:185-189, 1993. [PubMed: 8261647]
    Index Terms: Heterodisomy
  • Los F J, Van Opstal D, Van den Berg C, Braat A P G, Verhoef S, Wesby-Van Swaay E, Van Den Ouweland A M W, Halley D J J.: Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue. Prenat. Diag. 18:659-668, 1998. [PubMed: 9706646]
    Cases 2 and 3:
    Case 2:Short term culture of villi=47,XX,+16[37].ish (pHuR195x2 and x3). AF=46,XX.,Case 3:ish (pHuR195x2 and x3). Short term culture of villi and AF=46,XY.
    Case 2 also reported by Van Opstal et al (1998) and cited under 2+.
    Index Terms: UPD
  • McConnell H D, Carr D H: Recent advances in the cytogenetic study of human spontaneous abortions. Obst. Gynecol. 45:547-552, 1975. [PubMed: 1124170]
    Two cases are reported here.
    47,XX or XY,+16.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Neiswanger K, Hohler P M, Hively-Thomas L B, McPherson E W, Hogge W A, Surti U.: Variable outcomes in mosaic trisomy 16: five case reports and literature analysis. Prenat. Diag. DOI=10.1002/pd.1437; 26:454-461, 2006. [PubMed: 16557642]
    These authors, collated data on 125, out of 226, reported cases in the literature, and suggest that IUGR and heart defects commonly occur, complications are limited to prematurity, small-for-gestational-age infants, and/or minor or surgically reparable birth defects.
  • Paulyson K J, Sherer D M, Christian S L, Lewis K M, Ledbetter D H, Salafia C M, Meck J M.: Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin. Prenat. Diag. 16:1021-1026, 1996. [PubMed: 8953635]
    Amniotic fluid:mos47,XX,+16[25 colonies]/46,XX[8 colonies].,Fetal skin and blood:46,XX[100 cells each].,Placenta (3 specimen):mos47,XX,+16[32/33;28/33;25/34].
    The infant was attaining appropriate milestones at 5 months of age. The mother had elevated MSAFP. A VSD was detected during the neonatal period.
    Molecular studies indicated biparental inheritance in the normal cell line, whereas a paternal origin was suggestive for trisomy.
    Index Terms: Paternal nondisjunction
  • Pergament E, Ginsberg N, Verlinsky Y, Cadkin A, Chu L, Truka L: Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet ii:286, 1983.
    47,XY,+16.
  • Pletcher B A, Sanz M M, Schlessel J S, Kunaporn S, Mckenna C, Bialer M G, Alonso M L, Zaslav A L, Brown W T, Ray J H.: Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns. Prenat. Diag. 14:933-940, 1994. [PubMed: 7899268]
    Case 1:
    mos46,XY/47,+16 in amniotic fluid, skin, umbilical cord, and placenta.
    The infant had MCA, and followed till 26 months of age. Uniparental disomy has been ruled out.
    Peripheral blood showed only normal 46 chromosomes.
    Case 2:
    mos46,XX/47,XX,+16 in amniotic fluid, and skin.
    The infant had MCA and died after cardiac surgery at 5 months of age.
    Fetal and peripheral blood showed only normal 46 chromosomes.
  • Post J G, Nijhuis J G: Trisomy 16 confined to the placenta. Prenat. Diag. 12:1001-1007, 1992. [PubMed: 1287635]
    Case 1: mos46,XY/47,XY,+16(100%, 78%, & 98% in different tissues).,Case 2: mos46,XX/47,XX,+16/69,XXX.
    Fetuses were extremely growth-retarded.
  • 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]
    160 of these were found.
  • Sanchez J M, Lopez de Diaz S, Panal M J, Moya G, Kenny A, Iglesias D, Wolstenholme J.: Severe fetal malformations associated with trisomy 16 confined to the placenta. Prenat. Diag. 17:777-779, 1997. [PubMed: 9267904]
    Cytotrophoblasts (direct)=47,XX,+16[25].,Amniotic fluid, fetal blood, fibroblasts, rectal mucosa, and liver=46,XX[410].
    Spontaneous delivery at 25 weeks and death in few minutes. IUGR associated with hypokinesia, enlarged cisterna, magna, dilation of both cerebral lateral ventricles, hypoplasia of the corpus callosum, and a single umbilical artery.
    Index Terms: CPM
  • Schneider A S, Bischoff F Z, McCaskill C, Coady M L, Stopfer J E, Shaffer L G.: Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. AJMG 66:204-208, 1996. [PubMed: 8958332]
    CVS-47,XY,+16.,Amniotic fluid @ 15 weeks-mos47,XY,+16[1]/46,XY[25].,Postnatal blood-46,XY,ish(D16Z1x2).
    CVS was performed for advanced maternal age and an ultrasound examination was within normal limits. Later ultrasound examination showed decreased fetal growth. Maternal heterodisomy was conclusively demonstrated.
    Index Terms: Maternal ... heterodisomy
  • Seller M J, Fear C, kumar A, Mohammed S.: Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities. Clin. Dysmorphol. 13:187-189, 2004. [PubMed: 15194958]
    47,XY,+16
    The 18 week fetus had MCA.
    Index Terms: IVF and trisomy 16
  • Simoni G, Brambati B, Maggi F, Jackson L: Trisomy 16 confined to chorionic villi and unfavourable outcome of pregnancy. Ann. Genet. 35:110-112, 1992. [PubMed: 1524407]
    Simoni G, Gimelli G, Cuoco C, Romitti L, Terzoli G L, Guerneri S, Rossella F, Pescetto L, Pezzolo A, Porta S, Brambati B, Porro E, Fraccaro M: First trimester fetal karyotyping: one thousand diagnoses. Hum. Genet. 72:203-209, 1986. [PubMed: 3957345]
    Case 124/83, Milan.
    Cases 1: G.F., and 2: C.E.
    47,XX,+16.
  • Sirchia S M, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi M G, Simoni G.: Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat. Diag. 18:201-206, 1998. [PubMed: 9556035]
    Case No. 10:
    CVS-Dir. (cytotrophoblasts)=47,XY,+16[7].,Long-term culture (mesenchyme)=46,XY[14].,Amniotic fluid=46,XY[37].
    Markers used were: D16S265, D16S312, D16S402, D16S403, and D16S511.
    Case No. 9:
    CVS-Dir. (cytotrophoblasts)=47,XX,+16[20].,Long-term culture (mesenchyme)=mos47,XX,+16[10]/46,XX[5].,Peripheral blood=46,XX[125].
    Markers used were: D16S265, D16S312, D16S402, D16S403, and D16S511.
    Index Terms: CPM,UPD
  • Slozina N M, Golovachev G D: Karyotypes of human spontaneous abortuses and some aspects of their phenotypical manifestation. Cytologia (USSR) 17:989-993, 1975. [PubMed: 1231104]
    Four abortuses are reported, all first trimesters with 47,XY,+16 Karyotype. 40% of the first trimester abortuses(75) were found to have chromosomal anomalies.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Tantravahi U, Matsumoto C, Delach J, Craffey A, Smeltzer J, Benn P.: Trisomy 16 mosaicism in amniotic fluid cell cultures. Prenat. Diag. 16:749-754, 1996. [PubMed: 8878286]
    mos46,XY(8 colonies)/47,XY,+16(18 colonies).,Placenta:5/7 were trisomic and by FISH 18/200.
    The 32 year-old underwent amniocentesis because of elevated MSAFP and elevated hCG. Ultrasound showed ASD and clinodactyly.
  • Taylor A I: Trisomy of chromosome 16 in a neonate. 47,XY,?16+. J. Med. Genet. 8:123-125, 1971. [PMC free article: PMC1468978] [PubMed: 5098068]
    47,XY,?+16.
  • Tharapel A T, Elias S, Shulman L P, Seely L, Emerson D S, Simpson J L: Resorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood. Prenat. Diag. 9:467-472, 1989. [PubMed: 2771885]
  • van Lijnschoten G, Albrechts J, Vallinga M, Hopman A H N, Arends J W, Geraedts J P M.: Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis. Hum. Genet. 94:518-522, 1994. [PubMed: 7959687]
    Index Terms: FISH ... abortion
  • Vassilakos P, Riotton G, Kajii T: Hydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical considerations. Am. J. Obst. Gynecol. 127:167-170, 1977. [PubMed: 188340]
    Index Terms: Hydatidiform mole
  • Vekemans M J J, Perry T B: Cytogenetic analysis of chorionic villi: a technical assessment. Hum. Genet. 72:307-310, 1986. [PubMed: 3699820]
    Case #85-08.
    47,XY,+16.
  • Verp M S, Rosinsky B, Sheikh Z, Amarose A P: Non-mosaic trisomy 16 confined to villi. Lancet ii:915-916, 1989. [PubMed: 2571827]
  • Wang B B T, Williams J III: Effect of confined placental mosaicism for trisomy 16 on fetal growth. Applied Cytogenet. 18:197-199, 1992.
    Case 1.
    mos46,XX(Amniotic fluid, cord blood, umbilical artery, placental biopsies)/47,XX,+16(chorionic villi, direct and cultured, chorionic membrane, random biopsy, placental biopsies).
    Intrauterine growth retardation was found. At the age of 36 months, the patient is at 40th percentile and normal psychomotor development.
    Case 2.
    mos46,XX/47,XX,+16.
    There was fetal demise at 15 weeks of gestation.
  • Wentz A C, Martens P, Wilroy R S, Jr: Luteal phase inadequacy and a chromosomal anomaly in recurrent abortion. Fert. Ster. 41:142-143, 1984. [PubMed: 6537925]
    47,XY,+16.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Whiteford M L, Coutts J, Al-roomi L, Mather A, Lowther G, Cooke A, Vaughan J I, Moore G E, Tolmie J L.: Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. Prenat. Diag. 15:579-584, 1995. [PubMed: 7659692]
    47,XY,+16.
    Cesarean section was performed at 31 weeks and support was withdrawn after 140 days. The baby had MCA.
    Index Terms: Uniparental isodisomy
  • Williams J III, Wang B B T, Rubin C H, Clark R D, Mohandas T K: Apparent non-mosaic trisomy 16 in chorionic villi: diagnostic dilemma or clinically significant finding? Prenat. Diag. 12:163-168, 1992. [PubMed: 1589417]
    46,XX-amniotic fluid and cord blood.,"47,XX,+16-chorionic villi (direct and culture);, and mosaic in placental tissues."
    At 26 months of age, the girl is at 40th percentile with normal psychomotor development. At birth she was noted to have Monilethrix and a glabellar nevus flammeus.
    MIM#: 158000
    Index Terms: Monilethrix,Glabellar nevus flammeus
  • Wolstenholme J.: An audit of trisomy 16 in man. Prenat. Diag. 15:109-121, 1995. [PubMed: 7784361]
    An excellent review of this topic including origin, UPD, and selection mechanisms.
  • Yancey M K, Hardin E L, Pacheco C, Kuslich C D, Donlon T A.: Non-mosaic trisomy 16 in a third-trimester fetus. Obstet. Gynecol. 87:856-860, 1996. [PubMed: 8677115]
    47,XX,+16
    Sonographic evaluation at 32 weeks in a 25-year-old showed oligohydramnios, severe growth retardation and dysmorphic features. Spontaneous labor at 35 weeks and delivery of a stillborn female fetus with 783 gms birth weight.
    Paternally derived extra 16 may play a role in the ultimate phenotypic expression.
  • 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: NBK106151
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