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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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0Xq200

0Xq20
  • Carmi R, Meryash D L, Wood J, Gerald P S: Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant. Pediatrics 74:883-886, 1984. [PubMed: 6493884]
    Index Terms: Macro-orchidism
    No band
  • Carroll A J, Howard-Peebles P N: Normal activity and electrophoretic mobility of erthrocyte glucose-6-phosphate dehydrogenase in males with X-linked mental retardation and the fragile Xq. AJHG 33:826-828, 1981. [PMC free article: PMC1685130] [PubMed: 7197466]
    MIM#: 305900
    No band
  • Chandra H S, Reddy G N, Peter J, Venkatachalaiah G: A 47,XXq-Y Klinefelter male. J. Med. Genet. 8:530-532, 1971. [PMC free article: PMC1469083] [PubMed: 5149539]
    47,XY,del(X)(q2).&47,XY,del(X)(pter -> q2:).
    Aberration: Simple translocation
    Index Terms: Klinefelter syndrome
    No band
  • Cohen M M, Lin C C, Sybert V P, Orecchio E J: Two human X-autosome translocations identified by autoradiography and fluorescence. AJHG 24:583-597, 1972. [PMC free article: PMC1762175] [PubMed: 5054227]
    Patient No. 2 in this report.
    46,X,t(X;8)(q2;q1).
    Aberration: Simple translocation
    No band
  • Couillin P, Le Guern E, Ravise N, Grisard M C, Oostra B A, Boue A: "Strategy for constructing somatic hybrids isolating the two derivative chromosomes in X;autosome translocations. Application to a female patient t(X;5) with Hunter syndrome." Ann. Genet. 3:196-207, 1990. [PubMed: 2128908]
    Mossman J, Blunt S, Stephens R, Jones E E, Pembrey M E: Hunter''s disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch. Dis. Childhood 58:911-915, 1983. [PMC free article: PMC1628393] [PubMed: 6418082]
    Roberts S H, Upadhyaya M, Sarfarazi M, Harper P S: Further evidence localising the gene for Hunter''s syndrome to the distal region of the X chromosome long arm. J. Med. Genet. 26:309-313, 1989. [PMC free article: PMC1015597] [PubMed: 2499679]
    46,X,t(X;5)(Xpter -> Xq27 or 8::5q33 -> 5qter;5pter -> 5q 33::Xq27 or 8 -> Xqter).&Parental karyotypes were normal.
    Linkage studies using several DNA probes enabled the conclusion that the Hunter locus is in the distal region of the X chromosome.
    Aberration: Reciprocal translocation
    Index Terms: Hunter syndrome
    No band
  • Daker M G: Fragile X chromosome in normal males. AJMG 14:795-796, 1983. [PubMed: 6846408]
    Aberration: Fragile sites
    No band
  • De Arce M A: Tables for the cytogenetic study of fragile X chromosomes for diagnostic purposes. Clin. Genet. 24:320-323, 1983. [PubMed: 6686091]
    Aberration: Fragile sites
    No band
  • de la Chapelle A, Schroder J: Reappraisal of a 46,X,i(Xp) karyotype as 46,X,del(Xq). Hereditas 80:137-140, 1975. [PubMed: 1141014]
    46,X,del(X)(q2).&46,X,del(X)(pter -> q2:).&The authors have refrained from making detailed interpretation. The deletion could be terminal at q24 or an interstitial one involving q25.
    No band
  • Dutrillaux B: Chromosomal aspects of human male sterility. Nobel Symposium 23:205-208, 1972. [PubMed: 4804750]
    46,X,t(X;1)(q2;q2).&"46,Y,der(X)der(1)t(X;1)(q2;q2)mat."&See report of Dutrillaux et al, 1972 under 0Xq280.
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    No band
  • Escalante J A: Estudo genetico da deficiencia mental. Ph.D. thesis presented to the University of Sao Paulo, 1971.
    Escalante J A, Frota-Pessoa O: Retardamento mental. In Becak, W and O Frota-Pessoa (Eds.) Genetica Medica, Sao Paulo, Sarvier, 300-308, 1973.
    Vianna-Morgante A M, Armando I, Frota-Pessoa O: Escalante syndrome and the marker X chromosome. AJMG 12:237-240, 1982. [PubMed: 7201744]
    Aberration: Fragile sites
    No band
  • Glover T W, Howard-Peebles P N: The combined effects of FUdR addition and methionine depletion on the X-chromosome fragile site. AJHG 35:117-122, 1983. [PMC free article: PMC1685483] [PubMed: 6218753]
    Howard-Peebles P N, Howell W M: Mental retardation, marker X chromosomes, and silver-staining (NORs). Cytogenet. Cell Genet. 23:277-278, 1979. [PubMed: 87293]
    Howard-Peebles P N, Stoddard G R, Mims M G: Familial X-linked mental retardation, verbal disability, and marker X chromosomes. AJHG 31:214-222, 1979. [PMC free article: PMC1685770] [PubMed: 453204]
    Families E0772-9 and E0642 in this report.
    No silver stained areas were seen on the marker X in 8 males.&"A generalized language disability was found which tended -> concentrate in the areas of auditory reception, auditory sequential memory, visual closure and grammatic closure. Four family members with non-specific X-linked mental retardation were studied using media 199 and GTG-banding; one family had a marker X with a fragile site in band Xq27 or 28."
    Aberration: Fragile sites
    Index Terms: Auditory ... disturbance,Verbal disability
    No band
  • Harvey J, Judge C, Wiener S: Familial X-linked mental retardation with an X chromosome abnormality. J. Med. Genet. 14:46-50, 1977. [PMC free article: PMC1013506] [PubMed: 839500]
    A secondary constriction type material was present at the tip of the long arm of X chromosome and this marker was present in three generations.
    Aberration: Fragile sites
    No band
  • Hecht F, Jacky P B, Sutherland G R: The fragile X chromosome: current methods. AJMG 11:489-495, 1982. [PubMed: 6211983]
    A useful review of the workshop proceedings is presented.
    Aberration: Fragile sites
    No band
  • Hecht F, Jones D L, Delay M, Klevit H: Xq- Turner''s syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner''s syndrome. J. Med. Genet. 7:1-4, 1970. [PMC free article: PMC1468913] [PubMed: 5480961]
    46,X,del(X)(q2).&46,X,del(X)(pter -> q2:).
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
  • Howard-Peebles P N, Friedman J M: Unaffected carrier males in families with fragile X syndrome. AJHG 37:956-964, 1985. [PMC free article: PMC1684698] [PubMed: 3863482]
    Krumdieck C L, Howard-Peebles P N: On the nature of Folic-acid-sensitive fragile sites in human chromosomes: an hypothesis. AJMG 16:23-28, 1983. [PubMed: 6638066]
    Sherman S L, Jacobs P A, Morton N E, Froster-Iskenius U, Howard-Peebles P N, Nielsen K B, Partington M W, Sutherland G R, Turner G, Watson M: Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum. Genet. 68:289-299, 1985. [PubMed: 3838733]
    Aberration: Fragile sites
    No band
  • Howard-Peebles P N, Pryor J C: Fragile sites in human chromosomes I. The effect of methionine on the Xq fragile site. Clin. Genet. 19:228-232, 1981. [PubMed: 6944163]
    Methionine was shown to be required for marker expression in Medium 199 and MEM.
    No band
  • Howard-Peebles P N, Stoddard G R: Race distribution in X-linked mental retardation with macro-orchidism and fragile site in Xq. AJHG 32:629-630, 1980. [PMC free article: PMC1686132] [PubMed: 6930822]
    Howard-Peebles P N, Stoddard G R: Familial X-linked mental retardation with a marker X chromosome and its relationship to macro-orchidism. Clin. Genet. 17:125-128, 1980. [PubMed: 6928810]
    46,XY,frag(X)(q27 or q28).
    Aberration: Fragile sites
    Index Terms: Macro-orchidism
    No band
  • Howard-Peebles P N: Non-specific X-linked mental retardation: background, types, diagnosis and prevalence. J. Ment. Def. Res. 26:205-213, 1982. [PubMed: 6763078]
    Aberration: Fragile sites
    No band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points in structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M.R.C. Repository No. K111-47 in this report.
    46,X,t(X;2)(q2;q2).
    Aberration: Simple translocation
    No band
  • Kocova M, Siegel S F, Wenger S L, Lee, P A, Nalesnik M, Trucco M.: Detection of Y chromosome sequences in a 45,X/46,XXq- patient by Southern blot analysis of PCR-amplified DNA and fluorescentin situ hybridization (FISH). AJMG 55:483-488, 1995. [PubMed: 7762591]
    mos45,X/46,X,del(X)(q2:) see below.
    At 7 months of age, a laparotomy was done, there was ambiguous genitalia at birth. At 14 1/2 years of age she had spontaneous pubertal development.
    Positive signals for Y were detected from blood, skin fibroblasts, and the left gonads but not in the right gonad.
    No band
  • Mareni C, Migeon B R: Fragile X syndrome: Search for phenotypic manifestations at loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase. AJHG 33:752-761, 1981. [PMC free article: PMC1685134] [PubMed: 7294024]
    G6PD and HGPRT activities seem to be unaffected in the presence of fragile X marker chromosome even though the loci are located in the same segment of the chromosome.
    No band
  • McDermott A, Walters R, Howell R T, Gardner A: Fragile X chromosome: clinical and cytogenetic studies on cases from seven families. J. Med. Genet. 20:169-178, 1983. [PMC free article: PMC1049041] [PubMed: 6876108]
    Aberration: Fragile sites
    No band
  • Opitz J M, Neri G, Reynolds J F, Spano L M, Editors: X-linked mental retardation 3. AJMG 30:1-702, 1988.
    Opitz J M, Reynolds J F, Spano L M, Editors: X-linked Mental Retardation. AJMG 23:1-737, 1986.
    Opitz J M, Sutherland G R: Conference report: International workshop on the fragile X and X-linked mental retardation. AJMG 17:5-94, 1984. [PubMed: 6369987]
    These are the proceedings of a conference held in Troina, Italy from September 13-16, 1987.
    Aberration: Fragile sites
    No band
  • Samana M, Perrotez C, Honissa R, Hafsia A, Seger J: Hemophilic A feminine avec deletion d''une partie du bras long d''un chromosome X. Path. Biol. 25(Suppl.):10-17, 1977. [PubMed: 353654]
    MIM#: 306700
    Index Terms: Hemophilia in a female
    No band
  • Sands M E: Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosome. Clin. Genet. 17:309-316, 1980. [PubMed: 7438488]
    A 40 year old woman with mental retardation, normal sexual development is reported. The normal X and the translocated X appeared to be randomly inactivated.
    46,X,t(Xq+;10q-).
    Aberration: Simple translocation
    No band
  • Sarto G E, Therman E, Patau K: "X-inactivation in man: A woman with t(Xq-;12q+)." AJHG 25:262-270, 1973. [PMC free article: PMC1762535] [PubMed: 4704858]
    46,X,t(X;12)(Xpter -> Xq2::12q2 -> 12qter;12pter -> 12q2::Xq2 -> Xqter).,The normal X chromosome is late labeling.
    Aberration: Reciprocal translocation
    No band
  • Saul R A, Harnden K J, Stevenson R E, Wilkes G, Hannig V L, Simensen R J, Strickland A L, Taylor H A: Clinical features in fragile X syndrome. Proc. Greenwood Genet. Ctr. 2:58-67, 1983.
    Aberration: Fragile sites
    No band
  • Sherman S L, Morton N E, Jacobs P A, Turner G: The marker (X) syndrome: a cytogenetic and genetic analysis. Ann. Hum. Genet. 48:21-37, 1984. [PubMed: 6712153]
    Aberration: Fragile sites
    No band
  • Simko A, Hornstein L, Soukup S W, Bagamery N: Fragile X chromosome: recognition in young children. Pediatrics 83:547-552, 1989. [PubMed: 2927995]
    Aberration: Fragile sites
    No band
  • Sutherland G R: Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium. Science 197:265-266, 1977. [PubMed: 877551]
    Sutherland G R, Ashforth P L C: X-linked mental retardation with macro-orchidism and the fragile site at Xq27 or 28. Hum. Genet. 48:117-120, 1979. [PubMed: 572332]
    Sutherland G R, Judge C G, Wiener S: Familial X-linked mental retardation with an X chromosome abnormality and macro-orchidism. J. Med. Genet. 17:73-74, 1980. [PMC free article: PMC1048497] [PubMed: 7189219]
    It was found that the fragile sites on various human chromosomes such as Xq27 or 28, 20p11, 2q1 and 10q23 were observed at a much greater frequency when medium 199 was used than when RPMI 1640, Ham''s F10, Eagle''s (basal), and CMRL 1969 were used.&It is suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with the fragile site at Xq27 or 28 be the same entity.&On the basis of measurements made of the genital sizes it has been suggested that large and small size testes are features of the same X-linked form of mental retardation.
    Aberration: Fragile sites
    Index Terms: Macro-orchidism
    No band
  • Sutherland G R, Mulley J C: Diagnostic molecular genetics of the fragile X. Clin. Genet. 37:2-11, 1990. [PubMed: 1967989]
    Aberration: Fragile sites
    No band
  • Tariverdian G, Weck B: Nonspecific X-linked mental retardation - a review. Hum. Genet. 62:95-109, 1982. [PubMed: 6761264]
    Aberration: Fragile sites
    No band
  • Therman E, Sarto G E, Patau K: Apparently isodicentric but functionally monocentric X chromosome in man. AJHG 26:83-92, 1974. [PMC free article: PMC1762552] [PubMed: 4130093]
    46,X,-X,+dic(X)(Xpter -> Xq2::Xq2 -> Xpter).,Also contains a fine table, which lists previously reported unbalanced X translocation cases.
    Aberration: Dicentric chromosome
    No band
  • Turner G, Opitz J M: X-linked mental retardation. AJMG 7:407-415, 1980. [PubMed: 7011031]
    Aberration: Fragile sites
    No band
  • Wright E V, Scanlon M F: X long-arm deletion with features of Turner''s syndrome. Lancet 1:933, 1974. [PubMed: 4133455]
    46,X,del(X)(pter -> q2:).,See reinterpretation of this karyotype by Kim et al (1974) under 0X0000.
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106394
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