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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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14q130

14q13
  • Same entry as in 01q420,05p150,09p220 (Boue and Gallano, 1984).
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    inv(14)(q13q24).
    Aberration: Inversion paracentric
    Negative band
  • Chen C P, Lee C C, Chen L F, Chuang C Y, Jan S W, Chen B F.: Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly. J. Med. Genet. 34:777-778, 1997. [PMC free article: PMC1051067] [PubMed: 9321769]
    Devriendt K, Fryns J-P, Chen C-P.: Holoprosencephaly in deletions of proximal chromosome 14q. J. Med. Genet. 35:612, 1998. [PMC free article: PMC1051376] [PubMed: 9678710]
    46,XY,del(14)(q13q21.1) or (q13q21.2)de novo.
    The fetus had microcephaly, alobar HPE, hypotelorism, a single nostril.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 14q-
    Index Terms: Cebocephaly
  • Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E, Heil I, Schuler H, Korsch E, Schwanitz G.: Mosaic tetrasomy 14pter->q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q. AJMG DOI=10.1002/ajmg.a.30631; 134A:305-308, 2005. [PubMed: 15723300]
    The 2 year old, with MCA, showed a marked psychomotor delay.
    Blood=47,XY,psu idic(14)(pter->q13::q13->pter)de novo[16]/46,XY[47]..
    Aberration: IC,DI
    Chromosomal Aneuploidy: 14q+
  • Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]
    Fryns J P, van den Berghe H: Paracentric inversion in man: personal experience and review of literature. Hum. Genet. 54:413-416, 1980. [PubMed: 7399530]
    Family No. 18, also reported by Jaeken et al
    46,XY,inv(14)(q13q24).
    Family V.
    Aberration: Inversion paracentric
    Negative band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XX,t(14;17)(q13;q11).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Hagerman R, Berry R, Jackson A W III, Campbell J, Smith A C M, McGavran L: Institutional screening for the fragile X syndrome. AJDC 142:1216-1221, 1988. [PubMed: 3177330]
    Case 11
    46,XX,probable inv dup(14)(pter->q32.3::q13->q32.3::q32.3->qter).
    Hyperpigmented callouses, right hemiparesis, asymmetric face.
    Aberration: Duplication
    Negative band
  • Ito M, Mutoh K, Okuno T, Mikawa H, Edagawa J, Abe T: De novo tandem duplication of the middle segment of the long arm of chromosome 14. Ann. Genet. 26:116-119, 1983. [PubMed: 6604486]
    46,XY,dir dup (14)(pter -> q22::q13 -> q22::q22 -> qter).
    Aberration: Direct duplication
    Negative band
  • Jaeken J, Fryns J P, Standaert L, de Cock P, van den Berghe H: De novo paracentric inversion in a microcephalic boy: 46,XY,inv (14)(q13q24). Ann. Genet. 23:105-107, 1980. [PubMed: 6967281]
    Patient V. F., 3 1/2 years old, with psychomotor retardation, incessant involuntary movements, anorexia, generalized hypertonia and hyperflexia is reported.
    Aberration: Inversion paracentric
    Index Terms: Hypertonia,Joints ... hyperflexia,Microcephaly
    Negative band
  • Johannisson R, Lohrs U, Wolff H H, Schwinger E: Two different XY-quadrivalent associations and impairement of fertility in men. Cytogenet. Cell Genet. 45:222-230, 1987. [PubMed: 3319437]
    Case 1: Patient N. K.
    46,XY,t(14;21)(q13;p13).
    Aberration: Reciprocal translocation
    Index Terms: Sterility ... male
    Negative band
  • Kim K C, Wakui K, Yamagishi A, Ohno T, Sato M, Imaizumi S, Aihara T, Fukushima Y, Ohashi H.: Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. AJMG 68:70-73, 1997. [PubMed: 8986279]
    Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra P N, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K.: A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror image-image polydactyly of hands and feet. J. Hum. Genet. 47:136-139, 2002. [PubMed: 11954550]
    Matsumoto N, Ohashi H, Kato R, Fujimoto M, Tsujita T, Sasaki T, Nakano M, Miyoshi O, Fukushima Y, Niikawa N.: Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet. Hum. Genet. 99:450-453, 1997. [PubMed: 9099832]
    The breakpoint was found to be between loci, AFM200ZH4 and D14S306.

    Matsumoto N, Soeda E, Ohashi H, Fujimoto M, Kato R, Tsujita T, Tomita H, Kondo S, Fukushima Y, Niikawa N.: A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2;14) in a mirror-image polydactyly patient. Genomics 45:11-16, 1997. [PubMed: 9339355]
    Patient (5-9153-5):
    46,XY,t(2;14)(p23.3;q13)de novo.
    There were 8 toes and six fingers.
    It was suggested that a novel gene responsible for the patterning of hands and feet along the A-P axis in embryogenesis may be located at one of these two breakpoints; later on found to be between markers D14S306 and AFM200ZH4 on chromosome 14.
    Aberration: Reciprocal translocation
    MIM#: 135750
    Index Terms: Tetramelic mirror-image polydactyly
    Negative band
  • Lefort G, Blanchet P, Belgrade N, Rivier F, Chaze A M, Sarda P, Demaille J, Pellestor F.: Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion. AJMG DOI=10.1002/ajmg.10720; 113:333-338, 2002. [PubMed: 12457404]
    In a Corrigendum (AJMG 118A:pages 200 onwards, published in 2003) the entire paper is republished with color pictures since the priginal paper had black and white figures.
    At the age of 32 weeks, the proposita was referred for evaluation of developmental delay.
    Mother=46,XX,inv(14)(q13q32.2) by RHG banding.,Proposita=46,XX,ish rec(14),dup q,,inv(14)(q13q32.2)mat(wcp14+,D14Z1/D22Z1++,D14S308-).
    The patient has dysmorphic features and at 4 1/2 years of age her course is marked by autistic behavior with absent speech.
    Aberration: IP,RE,DI
    Chromosomal Aneuploidy: 14q-;14q+
  • Mann J, Wcislo K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1021.
    46,XY,t(14;21)(q13;q11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Pot M L H, Giltay J C, van Wilsen A, Breslau-Siderius E J.: Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children. Clin. Genet. 50:398-402, 1996. [PubMed: 9007331]
    Case 1:
    46,XY,der dup(14)(q13->q22)mat
    Mild mental retardation and some dysmorphic features were present in the two children and their mother. Fetility of the mother was unaffected. At age 5 years the WPPSI IQ score was 70.
    Aberration: Duplication
    Chromosomal Aneuploidy: 14q+
    Negative band
  • Pot M L H, Giltay J C, van Wilson A, Breslau-Siderius E J.: Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children. Clin. Genet. 50:398-402, 1996. [PubMed: 9007331]
    Mother:46,XX,dup(14)(pter->q22::q13->q22::q22-qter).,Her two children:46,XX and XY,der dup(14)(q13->q22)mat.
    The mother had finished grammar school and some college education, height was 1.72cm. She had broad nasal tip, full lips, a small chin and a broad neck. There was thoracic kyphosis. The two children also were mildly affected.
    Aberration: Duplication
    Chromosomal Aneuploidy: 14q+
    No band
  • Richkind K E, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1022.
    46,XY,t(14;22)(q13;q11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Strain J E, Smith A C M, Ward B E, Robinson A: Inverted tandem duplication of the middle segment of the long arm of chromosome 14. Pediatrics 67:273-276, 1981. [PubMed: 7243453]
    46,XY,inv dup(14)(pter -> q310::q243 -> q130).&"It is claimed that this is the first report of an individual with trisomy for the medial segment of the long arm of chromosome 14 resulting from a tandem duplication (q243 -> q130); and monosomic for 14q321 -> 14qter."
    Patient was 19 yrs old with mental retardation and multiple congenital anomalies including psychomotor and growth retardation, micrognathia, and high-arched palate.
    Aberration: Duplication
    Index Terms: Micrognathia,Palate ... high arched
    Negative band
  • Volleth M, Stumm M, Burger J, Muschke P, Wieacker P.: Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14. Cytogenet. Genome Res. 108:283-286, 2005. [PubMed: 15627746]
    Mother=46,XX,t(14;15)(q13;q11.2).,46,XX,-15,+der(14)t(14;15)(q13;q11.2)mat.
    The patient was 4 years and 8 months old with MCA resembling those of AS.
    Aberration: Robertsonian translocations
    MIM#: 14q+,15q-
  • Same entry as in 05q340,13q220 (Warburton D, 1991).
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107046
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