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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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  • Bauchinger M, Schmid E: "A case with balanced (14p+;15p-) translocation." Humangenetik 8:312-320, 1970. [PubMed: 5436700]
    46,XY,t(14p+;15p-).&Chromosome identification by autoradiography.
    Aberration: Simple translocation
    Variable band
  • Dale S, Earle E, Voullaire L, Rogers J, Choo K H: Centromeric alpha satellite DNA amplification and translocation in an unusually large chromosome 14p+ variant. Hum. Genet. 82:154-158, 1989. [PubMed: 2722191]
    Earle E, Dale S, Choo K H: Amplification of satellite III DNA in an unusually large chromosome 14p+ variant. Hum. Genet. 82:187-190, 1989. [PubMed: 2722196]
    WSi, DSi, ASi, JSi, Ksi, and MSi.
    46,XX or XY,14p+.&"46,XY,-14,+der(14)t(?4;14)(?q31;p?)."
    Aberration: Marker chromosome
    Variable band
  • de Blois M C, Caille B, Rethore M O, Dufier J L, Lejeune J: Ring 14 syndrome without major dysmorphism. Ann. Genet. 33:155-158, 1990. [PubMed: 2288460]
    Patient A. P., 271282.
    The boy was mentally retarded, epileptic, with whitish puncta of the macula, and almond shaped eyes.
    Aberration: Ring chromosome
    Variable band
  • Duckett D P, Roberts E, McKeever P, Young I D: Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21 to qter). Prenat. Diag. 10:261-264, 1990. [PubMed: 2367342]
    Ultrasonography at 18 weeks showed marked oligohydramnios with an exomphalos.
    Authors think that this the largest distal 14q trisomy reported in a case surviving beyond the first trimester.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 14q+
    Variable band
  • Earle E, Voullaire L E, Hills L, Slater H, Choo K H A: Absence of satellite III DNA in the centromere and the proximal long-arm region of human chromosome 14: analysis of a 14p- variant. Cytogenet. Cell Genet. 61:78-80, 1992. [PubMed: 1505236]
    Aberration: Marker chromosome
    Chromosomal Aneuploidy: 14p-
    Index Terms: Satellite III DNA
    Variable band
  • Emerit I, Noel B, Thiriet M, Loubon M, Quack B: Short arm deletion of chromosome 14. Humangenetik 15:33-38, 1972. [PubMed: 5046906]
    46,XY,del(14)(p1).&46,XY,del(14)(qter -> p1:).
    Aberration: Terminal deletion
    Variable band
  • Farrell S A, Winsor E J T, Markovic V D: Moving satellites and unstable chromosome translocations: clinical and cytogenetic implications. AJMG 46:715-720, 1993. [PubMed: 8362916]
    Case 1:
    46,XY,13p+ (amniotic fluid, cord blood, and cord fibroblasts).&46,XY,21p+ - Father.
    Case 2:
    46,XX,15p+(24/30 cells)/46,XX,14p+(6/30 cells).&46,XY,15p+ -father.
    Caution is advised in these type of cases especially in prenatal situations.
    Aberration: Marker chromosome
    Index Terms: Satellites moving,Translocation ... unstable
    Variable band
  • Gigliani F, de Capoa A, Rocchi A: A marker number 14 with double satellite observed in two generations. Humangenetik 15:191-195, 1972. [PubMed: 5049073]
    46,XY,t(D or G;14)(p1;p1).&"46,XX,der(D or G)der(14)t(D or G;14)(p1;p1)."
    Aberration: Simple translocation
    Variable band
  • Gilgenkrantz S, Cabrol C, Lausecker C, Hartbeyler M E, Bohe B: The Dr syndrome. Report of a new case (46,XX,14r). Ann. Genet. 14:23-31, 1971. [PubMed: 5314291]
    46,XX,r(14).&Chromosome identification by autoradiography.
    Aberration: Ring chromosome
    Variable band
  • Gravholt C H, Friedrich U, Caprani M, Jorgensen A L: Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization. Genomics 14:924-930, 1992. [PubMed: 1478673]
    21 cases of t(13;14) and 3 of t(14;21) were studied.
    45,XX or XY,der rob(14;21)mat or pat.
    All of them were dicentric. Rearrangements tend to occur in satellite III DNA. The findings localize satellite III DNA to the short arm distal to centromeric alpha-repeat DNA and proximal to beta-satellite DNA.
    Aberration: TR,DI
    Index Terms: Satellite DNA
    Variable band
  • Jalbert P, Sele B, Jalbert H, Sirand L, Pison H, Couturier J: Ring chromosome 14 in monozygotic twins. Ann. Genet. 20:59-62, 1977. [PubMed: 302677]
    Cases V and I (220673) in this report.
    46,XX,r(14).&Both parents had normal chromosomes. The twins, with psychomotor retardation, had no obvious somatic malformations.
    Aberration: Ring chromosome
    Variable band
  • Jean M, Rival J M, Mensier A, Mirallie S, Lopes P, Barriere P.: Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection. Fert. Steril. 67:164-165, 1997. [PubMed: 8986702]
    mos46,XX,r(14)(13 cells)/45,XX,-14(10 cells) in 10 independent colonies.
    Ultrasound at 12 weeks revealed cystic hygroma.
    The couple with 5 years of primary infertility had the ICSI procedure. The pregnancy was terminated at 14 weeks.
    Aberration: Ring chromosome
    Index Terms: Intracytoplasmic sperm injection (ICSI)
    Variable band
  • Krawczun M, Melink G, Cervenka J: Ring chromosome 14 and immunoglobulin locus. AJMG 17:465-469, 1984. [PubMed: 6702898]
    Patient was 2 1/2 years old.
    Aberration: Ring chromosome
    Variable band
  • Krishna Murthy D S, Sundareshan T S, Farag T I, Al-Awadi S A, Al-Othman S A: "Segregation of acrocentric chromosome association in familial dicentric Robertsonian translocation t(14p;22p), aneuploidy (trisomy-21) and heteromorphism." Ind. J. Exp. Biol. 28:511-515, 1990. [PubMed: 2144840]
    46,XX,-14,-22,+der tdic(14p;22p)pat,+21.
    See report by Farag et al (1987) under 14p110.
    Aberration: Robertsonian translocations
    Variable band
  • Lambert J C, Ferrari M, Bergondi C, Galliana A, Ayraud N: "18q- syndrome resulting from a t dic(14p;18q)." Hum. Genet. 48:61-66, 1979. [PubMed: 457135]
    Patient, 090575, 18 months old, in this report.
    45,XY,-14,-18,+t dic(14;18)(p1;q2).&"45,XY,-14,-18,+t dic(14;18)(14qter -> 14p1::18q22 or 23 -> 18pter)."
    Aberration: Dicentric chromosome
    Variable band
  • Lau Y F, Wertelecki W, Pfeiffer R A, Arrighi F E: Cytological analysis of a 14p+ variant by means of N-Banding and combinations of silver staining and chromosome bandings. Hum. Genet. 46:75-82, 1979. [PubMed: 85597]
    An inherited 14p+ variant was studied by a number of cytochemical techniques; p+ arm was as long as q arm. Three secondary constrictions were observed. The entire arm stained deeply in N-banded preparations was Q-negative, C-negative, G-negative, and R-positive with an almost homogeneous texture. The difference between N-banding and silver staining was interpreted as the result of gene activities of the ribosomal cistrons.
    Variable band
  • Lippe B M, Sparkes R S: Ring 14 chromosome: Association with seizures. AJMG 9:301-305, 1981. [PubMed: 6170224]
    Patient was one year old. Patients with r(14), and there are 7 of them, seem to have focal cerebral atrophy with seizures as their dominant manifestation, together with few minor facial anomalies. It is suggested that abnormalities in the 14 chromosome may result in rather nonspecific central nervous system maldevelopment and dysfunction and raises the possibility that unexplained seizures with minor anomalies and mental retardation may warrant chromosome investigation.
    Aberration: Ring chromosome
    Index Terms: Central nervous system ... malformation,Face ... anomalies,Seizures
    Variable band
  • Matalon R, Supple P, Wyandt H E, Rosenthal I M: Transmission of ring 14 chromosome from mother to two sons. AJMG 36:381-385, 1990. [PubMed: 2202211]
    Patients 1 and 2 were brothers.
    46,XY,der r(14)mat.&Mother:mos46,XX,r(14)/45,XX,t(14q21q).
    There were no clinical manifestations in any of the three individuals.
    Aberration: RI,TR
    Variable band
  • Mikelsaar A V N, Tuur S J, Kyaosaar M E: Human karyotype polymorphism. I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population. Humangenetik 20:89-101, 1973. [PubMed: 4785172]
    Aberration: Marker chromosome
    Variable band
  • Same entry as in 13p100,13p120 (Niebuhr, 1972).

  • Nielsen J, Friedrich U, Hreidarsson A B: Frequency of deletion of short arm satellites in acrocentric chromosomes. J. Med. Genet. 11:177-180, 1974. [PMC free article: PMC1013115] [PubMed: 4135219]
    Propositus No. 10903 in this report.
    Aberration: Marker chromosome
    Variable band
  • Sparkes R S, Klisak I, Sparkes M C: Extended evaluation of previously reported twins with a ring 14 chromosome. Ann. Genet. 20:273-275, 1977. [PubMed: 305756]
    Further data on dermatoglyphics, genetic markers, and other clinical details are provided on the same set of twins reported earlier by Jalbert et al, 1977.
    Variable band
  • Thorburn M J, Martin P A: Chromosome studies in 101 mentally retarded handicapped children. J. Med. Genet. 8:59-64, 1971. [PMC free article: PMC1468976] [PubMed: 4255522]
    Aberration: Marker chromosome
    Variable band
  • Triolo O, Serra A, Bova R, Stella N C, Caruso P: Infant male with ring chromosome 14. Ann. Genet. 24:236-238, 1981. [PubMed: 6977306]
    Patient T.S., was 5 months old with dolicho- and microcephaly, micrognathia, broad flat nose bridge, light epicanthal folds, low-set malformed ears, ogival palate, drooping mouth, short neck, widely spaced nipples, laxity of skin, and hypertricosis. Deleted portions may be 14p13 to p12 or p11 and 14q32.
    Aberration: Ring chromosome
    Index Terms: Dolichocephaly,Ears ... low-set malformed,Epicanthal folds,Hypertrichosis,Microcephaly,Micrognathia,Mouth ... drooping,Neck ... short,Nipples ... widely spaced, hypoplastic,Palate ... ogival,Skin ... laxity
    Variable band
  • Trunca C, Opitz J M: Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 to 14qter). AJMG 1:217-228, 1977. [PubMed: 610431]
    46,XX,inv(14)(p1q24).&46,XX,rec(14)dup q(q31 -> qter)mat.
    Aberration: Inversion pericentric
    Variable band
  • Viersbach R, Engels H, Gamerdinger U, Hansmann M.: Delineation of supernumerary marker chromosomes in 38 patients. AJMG 76:351-358, 1998. [PubMed: 9545101]
    Cases 4-7:
    47,XX or XY,+idic(14)(pter->p10::p10->pter)
    Aberration: IC,DI
  • Xu J, Fong C-T, Cedrone E, Sullivan J, Wang N.: Prenatal identification of de novo marker chromosomes using micro-FISH appoach. Clin. Genet. 53:490-496, 1998. [PubMed: 9712542]
    Case 1:
    47,XY,+mar.rev ish i(14)(p10) or i(22)(p10) or der(14;22)t(14;22)(p10;p10)de novo.
    The infant appears to be normal and the chromosomes were confirmed after birth in a blood specimen.
    Aberration: Simple translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106795


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