0Xq210

0Xq21

Publication Details

  • 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]
    Case No. 2 in this report.
    t(X;4)(q21;p13).
    Case No. 5 in this report.
    t(X;?)(q21;?).
    Aberration: Simple translocation
    Positive band

  • Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D.: A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. AJHG 62:533-541, 1998. [PMC free article: PMC1376955] [PubMed: 9497258]
    Riva P, Magnani I, FuhrmannConti A M, Gelli D, Sala C, Toniolo D, Larizza L.: FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure. Clin. Genet. 50:267-269, 1996. [PubMed: 9001815]
    Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, gregato G, Rossi E, Pramparo T, Zuffardi O, Toniolo D.: Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum. Reprod. 21: 1477-1483, 2006. [PubMed: 16497693]
    46,X,t(X;1)(q21;p34)
    The 17 yo was being evaluated for secondary amenorrhea.
    Aberration: Reciprocal translocation
    Index Terms: Premature Ovarian Failure (POF)
    No band

  • Boczkowski K, Mikkelsen M: Fluorescence and autoradiographic studies in patients with Turner''s syndrome and 46,XXp- and 46,XXq- karyotypes. J. Med. Genet. 10:350-355, 1973. [PMC free article: PMC1013055] [PubMed: 4129970]
    Case No. 2 M.G. (131149) in this report.
    46,X,del(X)(pter -> q21:).
    Aberration: Terminal deletion
    Positive band

  • Clouston H J, Fenwick J, Webb A L, Herbert M, Murdoch A, Wolstenholme J.: Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts. Hum. Genet. 101:30-36, 1997. [PubMed: 9385365]
    mos46,X,del(X)(q21)[2]/46,XX[3]
    Aberration: Terminal deletion
    Index Terms: Blastocysts
    No band

  • Cremers F P M, Pfeiffer R A, van de Pol T J R, Hofker M H, Kruse T A, Wieringa B, Ropers H H: An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum. Genet. 77:23-27, 1987. [PubMed: 3476455]
    The boy showed muscular hypotony, growth and psychomotor retardation, cryptorchidism, and Pelizaeus-Merzbacher disease.
    46,Y,dup(X)(q21-q22).
    Aberration: Duplication
    MIM#: 312080
    Index Terms: Cryptorchidism, (see also Testes, undescended),Hypotonia,Pelizaeus-Merzbacher disease
    Positive band

  • Cremers F P M, van de Pol D J R, Diergaarde P J, Wieringa B, Nussbaum R L, Schwartz M, Ropers H H: Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41-46, 1989. [PubMed: 2914708]
    Nussbaum R L, Lewis R A, Lesko J G, Ferrell R E: Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at Xq13-21. AJHG 37:473-481, 1985. [PMC free article: PMC1684597] [PubMed: 2988333]
    Aberration: Interstitial deletion
    MIM#: 303100
    Index Terms: Choroideremia
    Positive band

  • Daniel A, Saville T, Southall D B: Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter). J. Med. Genet. 16:278-284, 1979. [PMC free article: PMC1012670] [PubMed: 490580]
    46,X,i(X)(pter -> q2102 -> pter).,The proband was 17 1/2 years old, with low normal stature, slightly obese, had infantile genitalia, and complete absence of pubic and axillary hair, lack of breast development with widely spaced and hypoplastic nipples, a high narrow palate, and cubitus valgus, and also certain features of Turner''s syndrome.
    Aberration: Isochromosome
    Index Terms: Cubitus valgus,Genitalia ... infantile,Nipples ... widely spaced, hypoplastic,Obesity,Palate ... high arched,Palate ... narrow,Stature ... short (low),Turner syndrome
    Positive band

  • de Cassia Stocco R, da Cruz G C C, Becak W: X/15 translocation in a mentally normal XXX woman. Brazil. J. Genet. (Rev. Brazil. Genet.) 3:165-177, 1980.
    Patient M.S.B., 27 years old with history of abortion, secondary amenorrhea and early fetal death. Mother had 47,XXX chromosome constitution.
    47,XX,t(X;15)(q21;q25).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band

  • de Kok Y J M, Merkx G F M, van der Maarel S, Huber I, Malcolm S, Ropers H-H, Cremers F P M.: A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Hum. Mol. Genet. 4:2145-2150, 1995. [PubMed: 8589693]
    Veltman J A, Yntema H G, Lugtenberg D, Arts H, Briault S, Huys E H L P G, Osoegawa K, de Jong P, Brunner H G, Geurts van Kessel A, van Bokhoven H, Schoenmakers E F P M.: High resolution profiling of X chromosomeal aberrations by array comparative genomic hybridisation. J. Med. Genet. 41:425-432, 2004. [PMC free article: PMC1735810] [PubMed: 15173227]
    Aberration: Inversion paracentric
    MIM#: 304400
    Index Terms: Familial X-linked deafness (DFN3)
    Positive band

  • Fernandez R, Pasaro E.: Fluorescence in situ hybridization of psu dic(X)(Xpter-Xq21::Xq21-Xpter) in two patients with Turner''s syndrome. Hum. Hered. 48:82-86, 1998. [PubMed: 9526166]
    6/42 had dicentric X chromosomes of different derivations. Four others had different proportions of i(Xq) and del(Xp?).
    Patient 1:
    Initial=mos45,X/46,XX.,Final along with FISH on 830 metaphases=,mos45,X[94.7%]/46,XX[0.7%]/46,X,psu dic(Xp)(Xpter->Xq21::Xq21->Xpter)[4.6%].
    Patient 2:
    Initial=mos45,X/46,XX.,Final along with FISH on 319 metaphases=,mos45,X[71%]/46,X,psu dic(Xp)(Xpter->Xq21::Xq21->Xpter)[29%].
    Aberration: Dicentric chromosome
    Index Terms: Turner syndrome

  • Filippi G, Pecile V, Archidiacono N, Baragino E, Auber G, Rocchi M: "X chromosome replication patterns in a case of X;9 balanced translocation." J. Med. Genet. 20:467-468, 1983. [PMC free article: PMC1049186] [PubMed: 6655675]
    46,X,t(X;9)(Xpter -> Xq21::9p24 -> 9pter;9qter -> 9p24::Xq21 -> Xqter).,Breakpoint on the X chromosome is in the ''critical region'' and sterility is present; the normal X is late replicating.
    Aberration: Simple translocation
    Index Terms: Critical region of the X chromosome,Sterility
    Positive band

  • Forabosco A, Giorgi L, Formica A, Tarantino E, Dallapiccola B: Ovarian dysfunction in balanced X-autosome translocations: report of two cases involving band Xq21. Ann. Genet. 22:11-16, 1979.
    Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A.: Genes and translocations involved in POF. AJMG DOI=10.1002/ajmg.10565; 111:328-333, 2002. [PubMed: 12210333]
    Case 1, 18 year-old with primary amenorrhea.
    46,X,rcp(X;6)(q21;q27)de novo.
    Case 2, 20 year-old with primary amenorrhea, infantile external genitalia and hypoplastic sexual characters.
    46,X,rcp(X;12)(q21;q24)de novo.
    Aberration: Reciprocal translocation
    Index Terms: Genitalia ... infantile
    Positive band

  • Gilgenkrantz S, Mauuary G, Dutrillaux B, Masocco G: Late replication and X-autosome translocation. A case with banding patterns, autoradiographic and B.U.D.R. studies. Humangenetik 26:25-34, 1975. [PubMed: 50264]
    46,X,t(X;2)(q21;p25).&Normal X is inactivated. A good list of previously reported X-autosome translocations can be found in this report.
    Aberration: Simple translocation
    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;4)(Xpter -> Xq21::4q13 -> 4qter;4pter -> 4q13::Xq21 -> Xqter).,The normal X is late-replicating.
    Aberration: Reciprocal translocation
    Positive band

  • Ishitobi K, Harada Y: A case of 46,XXq- with Turner''s stigmata. Proc. Jpn. Acad. (Ser. B) 55:10-14, 1979.
    Patient K. H., 010446, with short stature is presented in this report.
    46,X,del(X)(pter -> q21:).
    Aberration: Terminal deletion
    Index Terms: Stature ... short (low),Turner syndrome
    Positive band

  • Ji X W, Chen X Y, Tan J, Liang H: "Balanced X;15 translocation 46,X,t(X;15)(q21;q23) associated with primary amenorrhea." AJMG 31:783-786, 1988. [PubMed: 3239568]
    46,X,t(X;15)(Xpter->Xq21::15q23->15qter;,15pter->15q23::Xq21->Xqter).
    Patient was 26 years old with primary amenorrhea, hypogonadism, and some secondary sexual charateristics.
    Aberration: Reciprocal translocation
    Positive band

  • 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 2:
    46,X,t(X;4)(q21;q35)de novo
    A female patient, 22 years old, had oligomenorrhoe. The der(X) was 100% early replicating.
    Aberration: Simple translocation
    Index Terms: X-inactivation pattern in X-autosome translocations

  • Maraschio P, Tupler R, Barbierato L, Dainotti E, Larizza D, Bernardi F, Hoeller H, Garau A, Tiepolo L.: An analysis of Xq deletions. Hum. Genet. 97:375-381, 1996. [PubMed: 8786087]
    14 cases of Xq deletions were studied: 11 were terminal, and 3 were due to X/ autosome translocations.
    Case 5, 29051960:
    mos45,X/46,X,del(X)(q21).
    Primary amenorrhea, cubitus valgus and low hairline.
    Case 6, 12051979:
    46,-X,+der(X),t(X;A)(q21;?).
    Short and large neck, cubitus valgus and absence of breast development.
    Aberration: TD,ST
    Chromosomal Aneuploidy: Xq-
    Positive band

  • Perissel B, Geneix A, Mage G, Charbonne F, Bruhat M, Malet P: "Gonadal dysgenesis due to an Xq-;15q+ translocation." Rev. Brasil Genet. 7:799-804, 1984.
    Patient was 26 years old.
    46,X,t(X;15)(q21;q25).
    Aberration: Simple translocation
    Index Terms: Gonadal dysgenesis
    Positive band

  • Petit P, Fryns J P, Koumans J, van den Berghe H: X-chromosomes attached by their long arm: case report and replication kinetics of the rearranged X-chromosome. Clin. Genet. 21:384-387, 1982. [PubMed: 7127879]
    Patient G. Y. was 16 years old.
    mos45,X/46,X,idic(X)(pter -> q21::q21 -> pter).
    Aberration: Isochromosome
    Positive band

  • Sauer F, Greenstein R M, Reardon P C, Riddick D H: Secondary amenorrhea associated with balanced X-autosome translocation. Obst. Gynecol. 49:101-104, 1977. [PubMed: 831158]
    Shimizu N, Behzadian M A, Shimizu Y: Genetics of cell surface receptors for bioactive polypeptides: Binding of epidermal growth factor is associated with the presence of human chromosome 7 in human-mouse cell hybrids. PNAS 77:3600-3604, 1980. [PMC free article: PMC349665] [PubMed: 6968072]
    46,X,t(X;7)(q21;p22).&"46,X,t(X;7)(Xpter -> Xq21::7p22 -> 7pter;7qter -> 7p22::Xq21 -> Xqter).",There is an error in the explanation provided by authors, probably a typographical one on line 3 of page 102. The 29-year-old patient was evaluated for primary infertility.
    Aberration: Reciprocal translocation
    Index Terms: Sterility
    Positive band

  • Schwanitz G, Zerres K: Partial monosomy 22 as a result of an X/22 translocation in a newborn with DiGeorge syndrome. Ann. Genet. 30:80-84, 1987. [PubMed: 3314667]
    Parental karyotypes were normal. The patient died soon after birth.
    45,X,rcp(X;22)(q21;q11).
    Aberration: Reciprocal translocation
    MIM#: 188400
    Index Terms: Di George syndrome
    Positive band

  • Schwartz S, Schwartz M F, Panny S R, Peterson C J, Waters E, Cohen M M: Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error. AJHG 38:741-750, 1986. [PMC free article: PMC1684824] [PubMed: 3459356]
    Patient was 16 months old.
    46,Y,inv dup(X)(pter -> q24::q21 -> qter).
    Aberration: Duplication
    Positive band

  • Seki T, Fujimoto S, Abe S, Sasaki M, Kawaguchi I, Kikukawa H, Kikuchi Y, Ichinoe K: Long arm deletion of the X chromosome, 46,X,del(X)(q21), associated with gonadoblastoma. Jpn. J. Hum. Genet. 26:307-312, 1981. [PubMed: 7345190]
    Patient was 28 years old with short stature and gonadoblastoma. ''None of the Xq- patients so far reported were associated with gonadoblastoma''.
    Aberration: Terminal deletion
    Index Terms: Gonadoblastoma,Stature ... short (low)
    Positive band

  • Skibsted L, Westh H, Niebuhr E: X long-arm deletions. A review of non-mosaic cases studied with banding techniques. Hum. Genet. 67:1-5, 1984. [PubMed: 6745919]
    46,X,del(X)(q21:).
    Aberration: Terminal deletion
    Positive band

  • Varella-Garcia M, Tajara E H, de Toledo Gagliardi A R: Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation. J. Med. Genet. 18:228-231, 1981. [PMC free article: PMC1048711] [PubMed: 7241547]
    Patient was 18 years old. Parents had normal karyotypes.
    46,X,dir dup(X)(pter -> q27::q21 -> qter).
    Aberration: Duplication
    Index Terms: Gonadal dysgenesis
    Positive band

  • Vust A, Riordan D, Wickstrom D, Chudley A E, Dawson A J.: Functional mosaic trisomy of 1q12->1q21 resulting from X-autosome insertion translocation with random inactivation. Clin. Genet. 54:70-73, 1998. [PubMed: 9727744]
    46,X,der(X)ins(X;?)(q21;?).ish der(X)ins(X;1)(q21;q12q21)(wcp1+).
    The patient GT was evaluated at 16 years of age because of behavioral problems.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 1q+

  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    46,X,t(X;12)(q21;q13).&mos 45,X/46,X,del(X)(q21)/47,X,+del(X)(q21),+del(X)(q21).
    Aberration: ST,TD
    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;2)(q21;p25).
    Aberration: Reciprocal translocation
    Positive band