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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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0Xp210

0Xp21
  • Bartley J A, Patil S R, Davenport S L H, Goldstein D J, Pickens J: Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. J. Ped. 108:189-192, 1986. [PubMed: 3003318]
    Two brothers with DMD are reported. One of them and the mother had the deletion of Xp21 band.
    46,XX and 46,XY,del(X)(p21).
    Aberration: Interstitial deletion
    Index Terms: Glycerol kinase deficiency,Muscular dystrophy ... Duchenne
    Positive band
  • Bernstein R, Jenkins T, Dawson B, Wagner J, Dewald G W, Koo G C, Wachtel S S: Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. J. Med. Genet. 17:291-300, 1980. [PMC free article: PMC1048573] [PubMed: 7193738]
    Bernstein R, Koo G C, Wachtel S S: Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries. Science 207:768-769, 1980. [PubMed: 7352285]
    Individuals I-2, II-3 and III-3.
    46,XXp+.
    Individuals III-2 and III-4.
    46,Y,dup(X)(p21 -> pter).&"Despite presence of the intact Y chromosome; there was no evidence of testicular differentiation in either subject. Production of H-Y antigen was suppressed in both subjects. It is suggested that development of the mammalian testis requires a normal functioning X chromosome."
    Patient, died after 5 years, with congenital abnormalities and profound mental retardation.
    46,X,dup(X)(p21-pter) in three generations.&46,X,dup(X)(p21-pter),Y.
    Aberration: Duplication
    Index Terms: Ovarian ... dysgenesis
    Positive band
  • Biemont M C, Laurent C, Couturier J, Dutrillaux B: Chronology of sexual chromosome bands replication from lymphocytes of normal and abnormal subjects. Ann. Genet. 21:133-141, 1978. [PubMed: 315188]
    Laurent C, Biemont M C, Dutrillaux B: Four new cases of X-autosome translocation in man. Humangenetik 26:35-46, 1975. [PubMed: 50265]
    Patient 1 in this report.
    46,X,t(X;1)(p21;p34).,46,X,t(X;1)(Xqter->Xp21::1p34->1pter;Xpter->Xp21::1p34->1qter).,In most of the cells, the normal X is inactivated.
    Aberration: Reciprocal translocation
    Positive band
  • Blennow E, Sahl+¬n S.: Rescue from the effects of trisomy 13q32->qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier. J. Med. Genet. 36:718-719, 1999. [PMC free article: PMC1734426] [PubMed: 10507733]
    46,X,der(X)t(X;13)(p21;q32)
    The patient is short (152cm) and had repeated spontaneous abortions.
    13q32-qter segment on the short arm of der(X) was inactivated and hence no phenotypic stigamta of 13q partial trisomy in the patient.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 13q+
  • Bodrug S E, Burghes A H M, Ray P M, Worton R G: Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics 4:101-104, 1989. [PubMed: 2914705]
    Bodrug S E, Ray P N, Gonzalez I L, Schmickel R D, Sylvester J E, Worton R G: Molecular analysis of a female constitutional X-autosome translocation in a female with muscular dystrophy. Science 237:1620-1624, 1987. [PubMed: 3629260]
    Verellen-Dumoulin C, Freund M, De Meyer R, Laterre Ch, Frederic J, Thompson M W, Markovic V D, Worton R G: Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum. Genet. 67:115-119, 1984. [PubMed: 6745920]
    46,X,t(X;21)(p21;p12).
    Aberration: Reciprocal translocation
    MIM#: 310200
    Index Terms: Muscular dystrophy
    Positive band
  • Bodrug S E, Burghes A H M, Ray P M, Worton R G: Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics 4:101-104, 1989. [PubMed: 2914705]
    Bodrug S E, Roberson J R, Weiss L, Ray P N, Worton R G, Van Dyke D L: "Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy." J. Med. Genet. 27:426-432, 1990. [PMC free article: PMC1017179] [PubMed: 2395160]
    Lindenbaum R H, Clarke G, Patel C, Moncrieff M, Hughes J T: "Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X chromosome short arm." J. Med. Genet. 16:389-392, 1979. [PMC free article: PMC1012616] [PubMed: 513085]
    A unique combination in a 5 year old girl of Duchenne muscular dystrophy with a translocation-inversion rearrangement. It is suggested that the Duchenne locus is on the X chromosome short arm (Xp1106 or Xp2107).,46,X,t(X;1)(p2107;p3400)inv(X)(p1106p2107).,46,X,t(X;1)(Xqter->Xp1106::Xp2107->Xp1106::1p3400->1pter;,1qter->1p3400::Xp2107->Xpter).
    Aberration: Reciprocal translocation
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Bodrug S E, Burghes A H M, Ray P M, Worton R G: Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics 4:101-104, 1989. [PubMed: 2914705]
    Jacobs P A, Hunt P A, Mayer M, Bart R D: Duchenne muscular dystrophy (DMD) in a female with an X/ autosome translocation: further evidence that the DMD locus is at Xp21. AJHG 33:513-518, 1981. [PMC free article: PMC1685082] [PubMed: 7258185]
    46,XX,t(X;5)(p21;q35).
    Aberration: Simple translocation
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Bodrug S E, Roberson J R, Weiss L, Ray P N, Worton R G, Van Dyke D L: "Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy." J. Med. Genet. 27:426-432, 1990. [PMC free article: PMC1017179] [PubMed: 2395160]
    46,X,t(X;4)(p21;q35).
    At birth CK level was raised. The translocation originated in the paternal genome.
    Aberration: Reciprocal translocation
    MIM#: 310200
    Positive band
  • Boyd Y, Buckle V J, Holt S, Munro E, Hunter D, Craig I W: "Muscular dystrophy in girls with X;autosome translocations." J. Med. Genet. 23:484-490, 1986. [PMC free article: PMC1049827] [PubMed: 3806636]
    Index Terms: Muscular dystrophy
    Positive band
  • Canki N, Dutrillaux B, Tivadar I: "Duchenne muscular dystrophy in a girl carrier of a de novo translocation t(X;3)(p21;q13)." Ann. Genet. 22:35-39, 1979.
    Case 220673 in this report.
    Normal X is inactive in most cells and inactivation seems -> extend into the segment of 3q. The resulting monosomy of 3q may explain the MR and the dysmorphia.
    Aberration: Simple translocation
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Darras B T, Koenig M, Kunkel L M, Francke U: Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. AJMG 29:713-726, 1988. [PubMed: 2897793]
    Two cases are presented.
    Aberration: Interstitial deletion
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne/Becker
    Positive band
  • de Martinville B, Kunkel L M, Bruns G, Morle F, Koenig M, Mandel J L, Horwich A, Latt S A, Gusella J F, Housman D, Francke U: Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. AJHG 37:235-249, 1985. [PMC free article: PMC1684559] [PubMed: 2984924]
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • de Saint-Basile G, Bohler M C, Fischer A, Carton J, Dufier J L, Griscelli C, Orkin S H: Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum. Genet. 80:85-89, 1988. [PubMed: 3417309]
    Frints S G M, Jun L, Fryns J-P, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers H-H, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G.: Inv(X)(p21.1q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. AJMG DOI=10.1002/ajmg.a.20195, 2003. [PubMed: 12784308]
    Patient S.B.
    No deletion was observed microscopically.
    Aberration: Interstitial deletion
    Positive band
  • Disteche C M, Swisshelm K, Forbes S, Pagon R A: X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum. Genet. 66:71-76, 1984. [PubMed: 6698557]
    Case 3.
    45,X,-22,+der(X),t(X;22)(Xqter -> cen -> Xp21::22q11 -> 22qter).
    Aberration: Simple translocation
    Positive band
  • Fries M H, Lebo R V, Schonberg S A, Golabi M, Seltzer W K, Gitelman S E, Golbus M S: Mental retardation locus in Xp21 chromosome microdeletion. AJMG 46:363-368, 1993. [PubMed: 8357005]
    Propositus D.D. in family 1; and L.C. in family 2.
    46,Y,der del(X)(p21)mat.&46,X,der del(X)(p21)mat.
    The two families had mentally retarded female carriers with DMD, GKD, and AH in affected males.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-
    Positive band
  • Gaal M, Laszlo J: X-inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis. Hum. Hered. 27:396-402, 1977. [PubMed: 908575]
    46,X,t(X;6)(p21;p24).&"46,X,-X,+der(6)t(X:6)(p21;p24)mat."&"46,X,-X,+der(6)t(X;6)(6qter -> 6p24::Xp21 -> Xpter)mat."&The 20 year-old patient had Turner phenotype and is essentially trisomic for a major portion of chromosome 6. Chromosome identification was by autoradiography and it is difficult -> follow the interpretations given about X-chromosome inactivation patterns.
    Aberration: Simple translocation
    Index Terms: Gonadal dysgenesis,Turner syndrome
    Positive band
  • Giacalone J P, Francke U: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. AJHG 50:725-741, 1992. [PMC free article: PMC1682635] [PubMed: 1347968]
    Patient: US 090479.
    46,X,t(X;4)(p21;q31)de novo.
    A clinical diagnosis of Duchenne muscular dystrophy was made.
    Aberration: Simple translocation
    MIM#: 310200
    Positive band
  • Grossniklaus H E, Muir A, Bruner W E, Annable W, Dickerman L L, Johnson W E: Sex chromosome aneuploidy and Bardet-Biedl syndrome. Ophthal. Paediat. Genet. 9:37-42, 1988. [PubMed: 3405592]
    Patient was 21 years old with several features of Turner syndrome.
    mos45,X/46,X,del(X)(p21).
    Aberration: Terminal deletion
    MIM#: 209900
    Positive band
  • Hagemeijer A, Hoovers J, Smit E M E, Bootsma D: Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet. Cell Genet. 18:333-348, 1977. [PubMed: 884969]
    46,X,t(X;6)(p21;q26).&"46,XX,-6,+der(6)t(X;6)(p21;q26)mat."
    Aberration: Reciprocal translocation
    Positive band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case Ia-3 from Hsu''s PDL 7782.
    mos46,XY/46,XY,t(X;9)(p21;q21)(34.3%).
    Normal male liveborn.
    Aberration: Reciprocal translocation
    Positive band
  • James R S, Sharp A J, Cockwell A E, Coppin B, Jacobs P A.: Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction. J. Med. Genet. 34:1030-1032, 1997. [PMC free article: PMC1051160] [PubMed: 9429151]
    The patient was born in 1967.
    At age 10, blood=mos45,X[97%]/46,X,+marker[3%].,At age 19, blood=45,X[50 cells).,At age 29, blood=45,X[50 cells];, blood with BrdU=mos45,X[148]/46,X,psu idic(Xq)[2];,skin=mos45,X[83]/46,X,psu idic(Xq)(qter->p21::p21->qter)[17].
    She has had two normal pregnancies: a male and a female.
    By molecular analyses the presence of a cryptic 46,XX cell line in her germ cells is documented.
    Aberration: DI,IC
  • Kalz-Fuller B, Sleegers E, Schwanitz G, Schubert R.: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet. 55:362-366, 1999. [PubMed: 10422808]
    Patient 4:
    46,X,t(X;17)(p21;q12/21)
    A female patient, 7 years old, had DMD. The der(X) was 100% early replicating.
    Aberration: Simple translocation
    MIM#: 310200
    Index Terms: X-inactivation pattern in X-autosome translocations
  • Kaosaar M, Mikelsaar A V N: Partial short arm deletion of the X chromosome 46,X,del(X)(qter to p21:). Hum. Genet. 53:275-277, 1980. [PubMed: 7358395]
    Patient L. E. 191252 is 25 years old with Turner syndrome stigmata.
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    Positive band
  • Kean V M, MacLeod H L, Thompson M W, Ray P N, Verellen-Dumoulin C, Worton R G: "Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy." J. Med. Genet. 23:491-493, 1986. [PMC free article: PMC1049828] [PubMed: 2879921]
    46,X,t(X;21)(p21;p12).
    Aberration: Simple translocation
    Index Terms: Muscular dystrophy
    Positive band
  • Koch J E, Kolvraa S, Hertz J M, Rasmussen K, Gregersen N, Fly G F, Bolund L A: In situ hybridization analysis of isodicentric X-chromosomes with short arm fusion. Clin. Genet. 37:450-455, 1990. [PubMed: 2383931]
    Case 1.
    46,X,idic(X)(qter -> p21::p21 -> qter).
    Patient was 11 years old with growth retardation.
    Case 2.
    mos45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq).
    Case previously reported by Niebuhr and Skovby (1977) cited under 0X0000.
    Aberration: DI,IC
    Positive band
  • Malhotra S B, Hart K A, Klamut H J, Thomas N S T, Bodrug S E, Burghes A H M, Bobrow M, Harper P S, Thompson M W, Ray P N, Worton R G: Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242:755-759, 1988. [PubMed: 3055295]
    Aberration: Interstitial deletion
    MIM#: 310200
    Chromosomal Aneuploidy: Xp-
    Index Terms: Frame shift mutation
    Positive band
  • Manea S R, Gershin I F, Babu A, Willner J P, Desnick R J, Cotter P D.: Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY,+r(X). Clin. Genet. 52:432-435, 1997. [PubMed: 9520254]
    Blood=mos47,XXY[30]/48,XXY,r(X)(p21q12)[20].ish r(X)(DXZ1+,wcpX+,XIST-).,Fibroblasts=mos47,XXY[10]/48,XXY,r(X)(p21q12)[40].
    The proband was referred at the age of 13 months for evaluation of growth retardation and dysmorphic facial features.
    Aberration: Ring chromosome
  • McCabe E R B, Towbin J A, van den Engh G, Trask B J: Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. AJHG 51:1277-1285, 1992. [PMC free article: PMC1682927] [PubMed: 1463011]
    Worley K C, Lindsay E A, Bailey W, Wise J, McCabe E R B, Baldini A.: Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. AJMG 57:615-619, 1995. [PubMed: 7573140]
    Data on patients KC, TSV, Mc, MMC, HS, ESP, BB, TM, JR, DW, CM, YB, and on brothers J.S. and G.S., R.P.O., B.B.K., and N.M. are presented in the 1995 paper.
    del(X)(p21).
    Patients manifesting a contiguous gene syndrome, known as "complex GKD" characterized by deletions involving the adrenal hypoplasia congenita (AHC), glycerol kinase (GK), and DMD loci are discussed.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-
    Positive band
  • Mornet E, Bogyo A, Deluchat C, Simon-Bouy B, Mathieu M, Thepot F, Grisard M C, Leguern E, Boue J, Boue A: Molecular analysis of a ring chromosome X in a family with fragile X syndrome. Hum. Genet. 92:373-378, 1993. [PubMed: 8225318]
    The patient, a sister of another patient with fragile X syndrome, was referred for counseling.
    mos45,X(76%)/46,X,r(X)(p21q27)(24%).
    An unusual combination]
    Aberration: Ring chromosome
    Index Terms: Fragile X syndrome
    Positive band
  • Murray J M, Davies K E, Harper P S, Meredith L, Mueller C R, Williamson R: Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 300:69-71, 1982. [PubMed: 6982420]
    The DNA sequence has been localized to Xp21->Xp223 segment.
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]
    Case No. 310-75.
    mos46,XY/46,dup(X)(p211 -> p222)Y.
    Aberration: Duplication
    Positive band
  • Nielsen L B, Nielsen I M: "Turner''s syndrome and Duchenne muscular dystrophy in a girl with an X;autosome translocation." Ann. Genet. 27:173-177, 1984. [PubMed: 6334482]
    46,X,t(X;9)(p21;p21).
    Aberration: Simple translocation
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne,Turner syndrome
    Positive band
  • Old J M, Briand P L, Purvis-Smith S, Howard N J, Willcken B, Hammond J, Pearson P L, Cathelineau L, Williamson R, Davies K E: Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis. Lancet 1:73-75, 1985. [PubMed: 2857026]
    46,X,del(X)(p21).
    Aberration: Interstitial deletion
    MIM#: 311250
    Positive band
  • Oorthuys J W E, Slater R M, Barrowclough H, de Kleine M J K: "Partial trisomy 3q due to a de novo translocation t(X;3)(p21;q12)." Clin. Genet. 20:130-134, 1981. [PubMed: 7307309]
    Patient, J.W., died after 55 hours. Parents had normal karyotypes.
    46,X,t(X;3)(Xqter -> Xp21::3q12 -> 3qter).
    Aberration: Simple translocation
    Positive band
  • Pearson P L, van der Linden A G J M, Hagemeijer A: Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids. BD-OAS X(No. 3):136-142, 1974. [PubMed: 4827480]
    Cited by Gerald, P S and J A Brown:29-34.
    t(X;8)(p12;p22).&The band is erroneously identified as p12. There is no such category, hence entered here.
    Aberration: Simple translocation
    Positive band
  • Ribeiro M C M, Melaragno M I, Schmidt B, Brunoni D, Gabbai A A, Hackel C: "Duchenne Muscular Dystrophy in a girl with an (X;15) translocation." AJMG 25:231-236, 1986. [PubMed: 3777020]
    Patient MFRV (Arq. EPM 3762) was 9 8/12 years old.
    46,X,t(X;15)(p21;q26).
    Aberration: Simple translocation
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Rigola M A, Carrera M, Ribas I, De La Iglesia C, Mendez B, Egozcue J, Fuster C.: Identification of two de novo partial trisomies by comparative genomic hybridization. Clin. Genet. 59:106-110, 2001. [PubMed: 11260211]
    Patient 2 was a 35 year-old sterile woman with premature menopause.
    46,X,add(X)(q28),rev ish der(X)t(X;X)(q28;p21),enh(Xp21).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp+
    Index Terms: CGH
    No band
  • Saito F, Goto J, Kakinuma H, Nakamura F, Murayama S, Nakano I, Tonomura A: Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. Clin. Genet. 29:92-93, 1986. [PubMed: 3004790]
    The patient was 9 years old with GK deficiency, muscular dystrophy, mental retardation, and congenital adrenal hypoplasia.
    Mother: 46,X,del(X)(p21).&Patient: 46,Y,der del(X)(p21)mat.
    Aberration: Interstitial deletion
    MIM#: 307030
    Index Terms: Glycerol kinase deficiency,Muscular dystrophy
    Positive band
  • Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette M F, Mattei M G.: Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study. J. Med. Genet. 35:932-938, 1998. [PMC free article: PMC1051487] [PubMed: 9832041]
    46,X,der(X)(pter->q21.1::p21->pter).
    The 12 month old patient was severely handicapped and some dysmorphic features.
    It is hypothesized that this derivative chromosome came from a maternal isodicentric X(q21.1) chromsome.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: Xp+;Xq-
  • Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G.: Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. AJMG Part A: 152 A: 904-915, 2010. [PubMed: 20358600]
    Patient 1=46,Y,ins(X;?)(p22.13;?).,Maternal grandmother=46,X,ins(X;?)(p22.13;?)[17]/47,XX,ins(X;?)(p22.13;?)[3].,Patient 2=46,X,dup(X)(p21.2p22.13).
    Aberration: Duplication
    Chromosomal Aneuploidy: Xp+
  • Varela M, Shapira E, Hyman D B: Ullrich-Turner syndrome in mother and daughter: Prenatal diagnosis of a 46,X,del(X)(p21) offspring from a 45,X mother with low-level mosaicism for the del(X)(p21) in one ovary. AJMG 39:411-412, 1991. [PubMed: 1877618]
    Mother-CL.
    45,X in blood, fibroblasts, left ovary; right ovary mos45,X(95%)/46,X,del(X)(p21)(5%).
    Two pregnancies: first ended in a miscarriage at 2 months. Second pregnancy resulted in a normal girl, and amniotic cultures showed the same deletion.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: Fertility,Mosaicism
    Positive 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;8)(p21;q13).
    Aberration: Reciprocal translocation
    Positive band
  • Ward B E, Bradley C M, Cooper J B, Robinson A: Homodicentric chromosomes: a distinctive type of dicentric chromosome. J. Med. Genet. 18:54-58, 1981. [PMC free article: PMC1048659] [PubMed: 7252999]
    Case 5.
    mos45,X(7%)/46,X,dic(X)(qter -> cen -> p21::p21 -> qter).
    Aberration: Dicentric chromosome
    Positive 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 P23=46,X,t(X;9)(p21;q22).,Case 24 and 25=46,X,t(X;11)(p21;q14)de novo and mat respectively.,Case P26=46,X,t(X;22)(p21;q13)de novo
    Aberration: Simple translocation
    No band
  • Wilcox D E, Cooke A, Colgan J, Boyd E, Aitken D A, Sinclair L, Glasgow L, Stephenson J B P, Ferguson-Smith M A: Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry. Hum. Genet. 73:175-180, 1986. [PubMed: 3721503]
    Aberration: Interstitial deletion
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Wood S, Shukin R J, McGillivray B C, Ray P N, Worton R G: A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome. AJMG 29:419-423, 1988. [PubMed: 2895584]
    Aberration: Interstitial deletion
    MIM#: 253400
    Positive band
  • Worton R G, Duff C, Sylvester J E, Schmickel R D, Willard H F: Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science 224:1447-1449, 1984. [PubMed: 6729462]
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Zatz M, Vianna-Morgante A M, Campos P, Diament A J: "Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localization of the DMD locus." J. Med. Genet. 18:442-447, 1981. [PMC free article: PMC1048790] [PubMed: 7334502]
    46,X,t(X;6)(Xqter -> Xp21::6q21 -> 6qter;Xpter -> Xp21::6q21 -> 6pter).
    Aberration: Reciprocal translocation
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Positive band
  • Zinn A R, Tonk V S, Chen Z, Flejter W L, Gardner H A, Guerra R, Kushner H, Schwartz S, Sybert V P, Van Dyke D L, Ross J L.: Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. AJHG 63:1757-1766, 1998. [PMC free article: PMC1377648] [PubMed: 9837829]
    Subject SW46=46,X,del(X)(p21).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: Turner syndrome locus
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106728
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