14+

Publication Details

  • 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)

  • Dallapiccola B, Ferranti G, Giannotti A, Novelli G, Pasquini L, Porfirio B: A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. J. Med. Genet. 21:467-470, 1984. [PMC free article: PMC1049351] [PubMed: 6512839]
    mos46,XY/47,XY,+14.

  • del Mazo J, Abrisqueta J A: Trisomy 14 by paternal origin. Hum. Genet. 68:193, 1984. [PubMed: 6500573]

  • Fujimoto A, Allanson J E, Crowe C A, Lipson M H, Johnson V P: Natural history of mosaic trisomy 14 syndrome. AJMG 44:189-196, 1992. [PubMed: 1456290]
    Johnson V P, Aceto T A, Likness C: Trisomy 14 mosaicism: Case report and review. AJMG 3:331-339, 1979. [PubMed: 474633]
    Patient 1.
    46,XY/47,XY,+14 (9% in 125 cells)-blood.
    Patient 2.
    46,XX/47,XX,+14 (14% in 100 cells-blood).
    The 1992 paper also has updated information on the cases reported earlier by Martin et al (1977) patient S.B., Johnson et al (1979) patient P.D., Fujimoto et al (1985) patient O.D., and Lipson (1987) patient J.R.,Although the surviving patients showed moderate growth and mental retardation, the oldest surviving woman at 29 years demonstrates functional language and appropiate self help skills.
    Patient PDS 300963 in this report.
    mos 46,XX/47,XX,+14.&The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation.
    Index Terms: Cleft lip/palate,Congenital heart defects (cardiovascular anomalies),Microcephaly,Micrognathia,Mouth ... wide,Palate ... high arched

  • Georgiades P, Chierakul C, Ferguson-Smith A C.: Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting. J. Med. Genet. 35:821-824, 1998. [PMC free article: PMC1051456] [PubMed: 9783704]
    31 previously published cases have been studied and data analyzed.
    Some interesting observations have been made with regards to genomic imprinting of loci on 14q and partial trisomies and parental origin. Additional information on Table 1 is available from Dr. Anne Ferguson-Smith (Received on 1-19-1999).

  • 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]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)

  • Iglesias A, McCurdy L D, Glass I A, Cotter P D, Illueca M, Perenyi A, Sansaricq C.: Mosaic trisomy 14 with hepatic involvement. Ann. Genet. 40:104-108, 1997. [PubMed: 9259957]
    Blood=mos47,XY,+14[14%]/46,XY.,Skin=mos47,XY,+14[8%]/46,XY.
    The patient was 6 months old with growth failure, microcephaly, macroglossia, developmental delay, hypotonia, CHD, and right hand showing reticulated patterning of hypo- and hyperpigmentation.
    Index Terms: Hepatic involvement

  • Kajii T, Ohama K, Ferrier A: Trisomy 14 in spontaneous abortus. Humangenetik 15:265-267, 1972. [PubMed: 4117151]
    47,XX,+14.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)

  • Kaplan L C, Wayne A, Crowell S, Latt S A: Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature. AJMG 23:925-930, 1986. [PubMed: 3515939]
    Patient was 9 months old; was karyotyped at day 1 because of congenital heart defect.
    mos46,XY/47,XY,+14.
    Index Terms: Congenital heart defects (cardiovascular anomalies)

  • Keitges E A, Skogerbor K J, Luthardt F W: Mosaic trisomy 14 diagnosed at amniocentesis, confirmed in CVS cultures, but absent in fetal skin cultures. Cytogenet. Cell Genet. 63:251, 1993.
    mos46,XY/47,XY,+14(22%)-five separate culture vessels;, five clones from four separate cover slips.,46,XY (4 cells from direct villi, 14 cells from cultures)/,47,XY,+14 (2 cells from culture villi).,46,XY from fetal skin cultures.
    Case ascertained from a 35 year old mother.

  • Kulharenko V I, Kuliev A M, Grinberg K N, Terskikh V V: Cell cycles in human diploid and aneuploid strains. Humangenetik 24:285-296, 1974. [PubMed: 4280378]
    Kuliev A M, Kukharenko V I, Grinberg K N, Terskikh V V, Tamarkina A D, Bogomazov E A, Redkin P S, Vasileysky S S: Investigation of a cell strain with trisomy 14 from a spontaneously aborted human fetus. Humangenetik 21:1-12, 1974. [PubMed: 4135117]
    47,XX or XY,+14.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)

  • Lipson M H: Trisomy 14 mosaicism syndrome. AJMG 26:541-544, 1987. [PubMed: 3565467]
    Anomalies include growth delay, mental retardation, prominent forehead, wide nasal bridge, hypertelorism, cleft palate, low-set ears, micrognathia, CHD, evanescent translucent film over the eyes, and asymmetry of body.
    Blood: mos46,XX(23-77%)/47,XX,+14(7-23%).&Skin: mos46,XX(98)/47,XX,+14(4).
    See the report of Fujimoto et al (1992) for updated data.
    Index Terms: Cleft lip/palate,Ears ... low-set,Forehead ... prominent,Hypertelorism,Micrognathia

  • Martin A O, Ford M M, Khalil N T, Turk K B, Macintyre M N: 46,XX/47,XX,+14 mosaicism in a liveborn infant. J. Med. Genet. 14:214-218, 1977. [PMC free article: PMC1013561] [PubMed: 881715]
    Case S. B. (1 1/2 years old) in this report.
    mos 46,XX/47,XX,+14.&The features of trisomy 14 appear to be developmental retardation, wide flat nose with bulbous or wide tip, large mouth with turned down corners (some with redundant skin folds), low-set ears, retrognathia, digital amomalies (usually contractions and deviations), palatal anomalies, and cryptorchidism. This is not the first case of a mosaic trisomy 14 in a liveborn infant as stated by the authors of this report, see Borgaonkar, D S: Computerized chromosome data bank. J. Med. Genet. 15:317, 1978.
    Index Terms: Cryptorchidism, (see also Testes, undescended),Developmental retardation,Ears ... low-set,Mouth ... downturned corners,Mouth ... large,Mouth ... wide,Skin ... folded

  • McConnell H D, Carr D H: Recent advances in the cytogenetic study of human spontaneous abortions. Obst. Gynecol. 45:547-552, 1975. [PubMed: 1124170]
    47,XX,+14.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)

  • McGaughran J, Stevens R, Blond A, Perry C.: Nasal encephalocele in a child with mosaic trisomy 14. Clin. Dysmorphol. 18: 164-165, 2009. [PubMed: 19369861]
    Skin=47,XY,+14[2]/46,XY[28].nuc ish 14q32(IGH x 3)[8]/14q32(IGH x 2)[142].
    The 6 week old presented with failure to thrive, pulmonary stenosis and stridor.
    The additional chromosome 14 was maternal in origin.
    Index Terms: Encephalocele

  • 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

  • Murken J D, Bauchinger M, Politzsch D, Pfeifer H, Suschke J, Haendle H: Trisomy D2 in a two and half years old girl (47,XX,14+). Humangenetik 10:254-268, 1970. [PubMed: 5475510]
    47,XX,+14.,Extra chromosome 14 identified by autoradiography. The clinical symptoms described appear to be different than those for trisomy 13.

  • Ohashi H, Tsukahara M, Murano I, Naritomi K, Nishioka K, Miyaki S, Kajii T: Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases. AJMG 43:716-721, 1992. [PubMed: 1621763]
    Patient No.6., and code number U0606-82-9.
    mos46,XX/47,XX,+14.
    Hypopigmented flecks and occasional lines on the body and limbs.
    Index Terms: Pigmentary dysplasia

  • Petersen M B, Vejerslev L O, Beck B: Trisomy 14 mosaicism in a 2 year old girl J. Med. Genet. 23:86-88, 1986. [PMC free article: PMC1049549] [PubMed: 3950941]

  • Rethore M O, Couturier J, Carpentier S, Ferrand J, Lejeune J: Mosaic trisomy 14 in a malformed child. Ann. Genet. 18:71-74, 1975. [PubMed: 1080041]
    Case I.P. No. 14.263 (100274) in this report.
    46,XX/47,XX,+14.This is probably the first report of mosaic trisomy 14, identified by banding techniques, in a liveborn.

  • 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]
    26 of these were found.

  • Sepulveda W, Monckeberg M J, Be C.: Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings. Prenat. Diag. 18:481-484, 1998. [PubMed: 9621382]
    Blood=mos46,XY[37]/47,XY,+14[5].
    Sonographic evaluation at 24 weeks for discordant fetal growth in a twin pregnancy showed IUGR, alobar holoprosencephaly, polyhydramnios and other dysmorphic features. A Caesarean section was performed at 37 weeks because of breach presentation. Tetralogy of Fallot was detected. The infant died at home after 36 days of life.
    Index Terms: Twins ... pregnancy,Mosaicism,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,

  • 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 40/83 Milan.
    47,XY,+14.

  • Sirchia S M, De Andreis C, Pariani S, Grimoldi M G, Molinari A, Buscaglia M, Simoni G.: Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype. Hum. Genet. 94:355-358, 1994. [PubMed: 7927328]
    mos46,XX/47,XX,+14.
    Pregnancy was terminated. Five polymorphic loci were used: D14S43, D14S49, D14S50, D14S51, and D14S59.
    Index Terms: UPD

  • Vachvanichsanong P, Jinorose U, Sangnuachua P: Trisomy 14 mosaicism in a 5-year-old boy. AJMG 40:80-83, 1991. [PubMed: 1887854]
    mos46,XY/47,XY,+14.
    There were multiple congenital anomalies including generalized linear and patchy hyperpigmentation.
    MIM#: 308300

  • Wegner R D, Hohle R, Karkut G, Sperling K: Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times. Prenat. Diag. 8:239-243, 1988. [PubMed: 3375201]

  • Witters I, Moerman P, Fryns J-P.: First-trimester scan in trisomy 14 mosaicism. Prenat. Diag. 24:573-580, 2004. [PubMed: 15300752]
    Amnio=46,XY/47,XY,+14[60%].
    The 13 week fetus had prominent forehead, hypertelorism, and small mandible. Pregnancy was terminated.
    Index Terms: Trisomy 14 mosaicism-first trimester scan