0Xq130

0Xq13

Publication Details

  • Abdelmoula N B, Portnoi M F, Amouri A, Arladan A, Chakroun M, Saad A, Hchicha M, Turki H, Rebai T.: Turner syndrome feamle with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis. Ann. Genet. 47:305-313, 2004. [PubMed: 15337477]
    45,X.ish 46,X,r(X)(XIST at Xq13.2-).
    The 10 year old was referred because of alopecia universalis, and had traits of TS, especially short stature.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: Xp-; Xq-
    Index Terms: Alopecia universalis

  • Allderdice P W, Miller O J, Miller D A, Klinger H P: "Spreading of inactivation in an (X;14) translocation." AJMG 2:233-240, 1978. [PubMed: 263441]
    Negative band

  • Aughton D J, Al Saadi A A, Johnson J A, Transue D J, Trock G L: Dir Dup(X)(q13 to qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies. AJMG 46:159-164, 1993. [PubMed: 7683452]
    46,X,dir dup(X)(q13 -> qter).
    The authors report on a three year old girl with developmental delay, growth retardation, microcephaly, and seizure disorder.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: Xq+
    Negative band

  • Beck J, Enders H, Schliephacke M, Buchwald-Saal, M, Tumer Z.: X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization. Clin. Genet. 46:295-298, 1994. [PubMed: 7834894]
    46,X,t(X;1)(q13;q12).
    Aberration: Simple translocation
    MIM#: 309400
    Index Terms: Menkes syndrome
    Negative band

  • 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]
    t(X;22)(q13;q11).
    Aberration: Reciprocal translocation
    Negative band

  • Brown C J, Ballabio A, Rupert J L, Lafreniere R G, Grompe M, Tonlorenzi R, Willard H F: A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38-44, 1991. [PubMed: 1985261]
    Brown C J, Lafreniere R G, Powers V E, Sebastio G, Ballabio A, Pettigrew A L, Ledbetter D H, Levy E, Craig I W, Willard H F: Localization of the X inactivation centre on the human X chromosome in Xq13. Nature 349:82-84, 1991. [PubMed: 1985270]
    MIM#: 314670
    Index Terms: X inactivation
    Negative band

  • Callen D F, Sutherland G R: "Normal female carrier and affected male half-sibs with t(X;5)(q13;p15). Location of a gene determining male genital development." Clin. Genet. 30:59-62, 1986. [PubMed: 3757297]
    A detailed clinical and cytogenetic study reporting localization of the gene on the X chromosome.
    46,X,t(X;5)(q13;p15).&"46,Y,t(X;5)(q13;p15)."
    Aberration: Simple translocation
    Negative band

  • Consalez G G, Gecz J, Stayton C L, Dabovic B, Pasini B, Pezzolo A, Bicocchi M P, Fontes M, Romeo G: Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient. Genomics 14:557-561, 1992. [PubMed: 1427884]
    Kapur S, Higgins J V, Delp K, Rogers B: Menkes syndrome in a girl with X-autosome translocation. AJMG 26:503-510, 1987. [PubMed: 3812600]
    Verga V, Hall B K, Wang S, Johnson S, Higgins J V, Glover T W: Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. AJHG 48:1133-1138, 1991. [PMC free article: PMC1683080] [PubMed: 2035533]
    Patient C.G. in this report; and parental karyotypes were normal.
    46,X,t(X;2)(q13;q32.2).
    The authors suggest that the breakpoint in this patient (and, therefore, likely the Menkes gene) maps to a small subregion of band Xq13.2-q13.3 proximal to the PGK 1 locus and distal to all other Xq13 loci tested.
    Aberration: Reciprocal translocation
    MIM#: 309400
    Index Terms: Menkes syndrome
    Negative band

  • Dalton P, Coppin B, James R, Skuse D, Jacobs P.: Three patients with a 45,X/46,X,psu dic(Xp) karyotype. J. Med. Genet. 35:519-524, 1998. [PMC free article: PMC1051351] [PubMed: 9643298]
    Case 1 was 9yrs old:
    45,X[98]/46,X,psu dic(X)(pter->q13::q13->pter)[32].
    Aberration: IC,DI

  • Dewald G W, Pierre R V, Phyliky R L: Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia. Blood 59:100-105, 1982. [PubMed: 7053756]
    Negative band

  • Dewhurst J: Gonadal dysgenesis and X chromosome deletion. Brit. J. Obst. Gynecol. 88:944-949, 1981. [PubMed: 7272268]
    Case 3 was 22 years old and 150 cm tall.
    46,X,del(X)(pter -> q13:).
    Case 4.
    46,X,i(Xq).
    Cases 1 and 2 were 31 and 19 years old and 137 cm and 142 cm, respectively.
    46,X,del(X)(pter -> q22:).
    Aberration: Terminal deletion
    Index Terms: Gonadal dysgenesis
    Negative band

  • Diedrich U, Hansmann I: "A familial X-autosome translocation with the breakpoint in the ""critical region""." Hum. Genet. 70:281-283, 1985. [PubMed: 4018792]
    Diedrich U, Hansmann I, Janke D, Opitz O, Probeck H D: Chromosome anomalies in 136 couples with a history of recurrent abortions. Hum. Genet. 65:48-52, 1983. [PubMed: 6642507]
    A three generation family was investigated because of spontaneous abortions.
    46,X or Y,t(X;4)(q13;p16).
    Aberration: Reciprocal translocation
    Index Terms: Critical region of the X chromosome,Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Duca D, Pana I, Ciovirnache M, Simionescu L, Ispas I, Maximilian C: A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the cokoauricular syndrome-autosomal or X-linked male-lethal. AJMG 8:173-180, 1981. [PubMed: 7282772]
    Patient SI 020444
    46,X,del(X)(q13).
    Aberration: Terminal deletion
    MIM#: 122780
    Index Terms: Dislocation ... hip,Hip(s) ... dislocation (coxa vara),Stature ... short (low)
    Negative band

  • Flejter W L, Van Dyke D L, Weiss L: Bends in human mitotic metaphase chromosomes, including a bend marking the X-inactivation center. AJHG 36:218-226, 1984. [PMC free article: PMC1684396] [PubMed: 6582784]
    Aberration: Marker chromosome
    Negative band

  • Geiger C J, Salzano F M, Mattevi M S, Erdtmann B, da Rocha F J: Chromosome Variation and genetic counseling-20 years of experience in Brazil. Brazil. J. Genet. 10:581-591, 1987.
    Case 1400, A. S. T. was 23 years old and had gonadal dysgenesis.
    46,X,t(X;5)(q13;p15).
    Aberration: Simple translocation
    Index Terms: Gonadal dysgenesis
    Negative band

  • Hall L L, Clemson C M, Byron M, Wydner K, Lawrence J B.: Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin. Hum. Mol. Genet. 11:3157-3165, 2002. [PubMed: 12444100]
    Opitz J M, Pallister P D, Ruddle F H: "An (X;14) translocation, unbalanced, 47 chromosomes." Cytogenet. Cell Genet. 12:290-291, 1973. [PubMed: 4752868]
    Opitz J M, Pallister P D, Ruddle F H: "An (X;14) translocation, balanced, 46 chromosomes." Cytogenet. Cell Genet. 12:289-290, 1973. [PubMed: 4796242]
    46,X,t(X;14)(q13;q32).&"46,X,t(X;14)(Xpter -> Xq13::?14q32 -> 14qter;14pter -> 14q32::Xq13 -> Xqter)."
    47,Y,-X,-14,+der(X)+der(14)+der(14)t(X;14)(q13;q32)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Hodgson S V, Barber J C K, Dowie A, Dubowitz V: "A de novo X;13 translocation with abnormal phenotype." J. Med. Genet. 23:477-478, 1986. [PMC free article: PMC1049790] [PubMed: 3783628]
    Both parents had normal karyotypes.
    46,X,t(X;13)(Xpter->Xq13::13p11->13pter;,13qter->13p11::Xq13->Xqter).
    Patient was 18 months old with multiple anomalies.
    Aberration: Reciprocal translocation
    Negative band

  • Ickstadt A, Palitzsch D, Foerster W, Fuhrmann-Rieger A: Unbalanced 8/X translocation. Monat. Kinderheil. 137:239-242, 1989. [PubMed: 2733701]
    J.P., 001084.
    46,X,t(X;8)(q13;q13).,46,X,t(X;8)(Xpter->Xq13::8q13->8qter).
    Patient had mild psychomotoric retardation, dysmorphic stigmata, feeding difficulties, and recurrent infections.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 8q+,Xq-
    Negative band

  • Immken L L, Mohandas T K, Sparkes R S, Shapiro L J: The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed. AJHG 36:979-986, 1984. [PMC free article: PMC1684506] [PubMed: 6594046]
    46,X,del(X)(q13q22).
    Aberration: Interstitial deletion
    Negative band

  • Jalal S M, Dahl R, Erickson L, Zimmerman D, Lindor N. : Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter->Xq13. J. Med. Genet. 33:237-239, 1996. [PMC free article: PMC1051876] [PubMed: 8728700]
    46,X,psu idic(X)(q13).
    The patient, 21 years old, was evaluated for primary amenorrhea and short stature.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: Xq+;Xp+
    Negative band

  • Kaback M M: Personal communication, 1978.
    46,X,-X,+der(9),rcp(X;9)(q13;q34)mat.
    mos 46,X,rcp(X;9)(q13;q34)14%/47,X,+10,rcp(X;9)(q13;q34).
    Aberration: Reciprocal translocation
    Negative band

  • Khong T Y, George K: Chromosomal abnormalities associated with a single umbilical artery. Prenat. Diag. 12:965-968, 1992. [PubMed: 1494550]
    46,X,t(X;5)(q13;p15).
    IUGR and single umbilical artery was found in 10/117 cytogenetically abnormal pregnancies.
    Aberration: Simple translocation
    Index Terms: Single umbilical artery
    Negative band

  • Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene C L, Raffel L J, Sullivan B, Schwartz S: Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. AJHG 52:1067-1073, 1993. [PMC free article: PMC1682285] [PubMed: 8503441]
    Case 5.
    46,X,der(X)t(X;3)(q13;q13).
    The patient had dysmorphic facial features, learning disab ilities, and behavioral problems.
    The clinical phenotype and/or cytogenetic evaluations suggested a likely origin of the duplicated material.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xq-,3q+
    Index Terms: FISH
    Negative band

  • Liu J: "Balanced X;3 translocation associated with gonadal dysgenesis: clinical report and review." AJMG 40:121-123, 1991. [PubMed: 1887841]
    46,X,t(X;3)(Xpter -> Xq13::3p25 -> 3pter;3qter -> 3p25::Xq13 -> Xqter).
    The 24 year-old woman was referred because of primary amenorrhea and lack of secondary sexual characteristics.
    Aberration: Reciprocal translocation
    Negative band

  • Lucas M, Smithies A: Banding patterns and autoradiographic studies of cells with an X-autosome translocation. Ann. Hum. Genet. 37:9-12, 1974. [PubMed: 4128188]
    46,X,t(X;15)(q13;p13).
    Aberration: Simple translocation
    Negative band

  • Maximilian C, Chirica S, Dumitriu L, Ciovirnache M, Fabritius K, Pana I, Popa M, Ioan D M: A case of long arm deletion of the X-chromosome in a patient with Turner syndrome. Rev. Roum. Med. Endocrinol. 21:279-283, 1983. [PubMed: 6665503]
    Patient N.M. aged 16 years.
    46,X,del(X)(q13 -> qter).
    Patient had short stature and delayed sexual development.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xq-
    Negative band

  • Multani A S, Shah V C, Singh D, Chakravarty N, Chinoy N J, Pathak S.: Deletion/inversion in the X-chromosome and increased telomeric associations in a female with primary amenorrhea. Braz. J. Genet. 20:511-516, 1997.
    The patient was 18years old.
    46,X,del(X)(q13->q22)inv(X)(q23->q27)
    Aberration: ID,IP
    Chromosomal Aneuploidy: Xq-

  • Muscatelli F, Verna J M, Philip N, Moncla A, Mattei M G, Mattei J F, Fontes M: Physical mapping of an Xq-proximal interstitial duplication in a male. Hum. Genet. 88:691-694, 1992. [PubMed: 1551675]
    46,Y,dup(X)(q13).
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
    Negative band

  • Reardon W, Roberts S, Phelps P D, Thomas N S, Beck L, Issac R, Hughes H E: Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness. AJMG 44:513-517, 1992. [PubMed: 1442898]
    46,Y,der del(X)(q13.3 or q21.1->q21.2)mat.,46,X,del(X)(q13.3 or q21.1->q21.2).
    Aberration: Interstitial deletion
    MIM#: 304400
    Chromosomal Aneuploidy: Xq-
    Index Terms: Deafness
    Negative band

  • Ricciuti F C, Ruddle F H: Assignment of three gene loci (PGK, HGPRT, G6PD) to the long arm of the human X chromosome by somatic cell genetics. Genetics 74:661-678, 1973. [PMC free article: PMC1212982] [PubMed: 4750811]
    See Opitz, Pallister and Ruddle (1973) in entry 0Xq130.
    Negative band

  • Steichen-Gersdorf E, Trawoger R, Duba H C, Mayr U, Felber S, Utermann G: "Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)." Hum. Genet. 90:611-613, 1993. [PubMed: 8444466]
    Zajac V, Kirchhoff T, Levy E R, Horsley S W, Miller A, Steichen-Gersdorf E, Monaco A P.: Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma. Europ. J. Hum. Genet. 5:61-68, 1997. [PubMed: 9195154]
    46,X,t(X;17)(q13;p13).
    Aberration: Simple translocation
    Index Terms: Hypomelanosis of Ito,Plexus papilloma
    Negative band

  • Steinbach P, Horstmann W, Scholz W: Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum. Genet. 54:309-313, 1980. [PubMed: 7399525]
    A 23 year old female.
    46,X,dup(X)(q13q22).&46,X,dup(X)(pter -> q22::q13 -> q22::q22 -> qter).
    A 6 month old boy with psychomotor retardation.
    46,Y,der dup(X)(q13q22)mat.
    Aberration: Direct duplication
    Negative band

  • Stoll C, Muller P, Dellenbach P: X deletion and primary amenorrhoea. Lancet 1:436, 1973. [PubMed: 4119758]
    46,X,del(X)(q13).&46,X,del(X)(pter -> q13:).
    Aberration: Terminal deletion
    Negative band

  • Sutherland G R, Carter R F: Cytogenetic studies: an essential part of the paediatric necropsy. J. Clin. Path. 36:140-142, 1983. [PMC free article: PMC498140] [PubMed: 6681820]
    One case.
    46,Y,t(X;5)(q13;p15).
    Aberration: Simple translocation
    Negative band

  • Tabor A, Andersen O, Lundsteen C, Niebuhr E, Sardemann H: "Interstitial deletion in the ""critical region"" of the long arm of the X chromsome in a mentally retarded boy and his normal mother." Hum. Genet. 64:196-199, 1983. [PubMed: 6885061]
    46,XX and XY, del(X)(q13q213).
    Aberration: Interstitial deletion
    Index Terms: Critical region of the X chromosome
    Negative band

  • Tantravahi U, Kirschner D A, Beauregard L J, Page L, Kunkel L M, Latt S A: Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center. Hum. Genet. 64:33-38, 1983. [PubMed: 6347866]
    Negative band

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,X,t(X;12)(q13;q24.3).
    Aberration: Reciprocal translocation
    Negative band

  • Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    Case P52,B97/3513=46,X,t(X;13)(q13;q15)de novo.,Cases P53,92/0595; 54,92/9050; and 55/4249=,46,X,t(X;15)(q13;q21).,Case P56,B94/2816=46,X,t(X;22)(q13;q11.1).,Case 57,B95/1242=46,X,t(X;6)(q13;q14.2)de novo.
    Aberration: Simple translocation
    No band

  • Willard H F, Riordan J R: Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940-942, 1985. [PubMed: 3840606]
    The myelin proteolipid protein sequences can be localized to region Xq13-Xq22 segment.
    MIM#: 312080
    Negative band

  • Yamamoto Y, Endo Y, Kuroki Y: A case of partial trisomy 17 resulting from X-autosomal translocation. J. Med. Genet. 16:395-399, 1979. [PMC free article: PMC1012618] [PubMed: 513087]
    46,X,t(X;17)(q13;q21).,46,X,t(X;17)(Xpter->Xq13::17q21->17qter;,17pter->17q21::Xq13->Xqter).,46,XY,der(X)der(17)t(X;17)(q13;q21)mat.
    3 year old patient, KC-17734, in this report. The patient is trisomic for segment 17pter to 17q21 and monosomic for Xpter to Xq13.
    46,X,-X,+der(17)t(X;17)(q13;q21)mat.
    Aberration: Reciprocal translocation
    Negative band