U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details

0Xq273

0Xq27.3
  • Barnicoat A J, Docherty Z, Bobrow M: Where have all the fragile X boys gone? Develop. Med. Child Neurol. 35:532-539, 1993. [PubMed: 7684989]
    Aberration: Fragile sites
    Positive band
  • Brown W T, Houck G E, Jeziorowska A, Levinson F N, Ding X, Dobkin C, Zhong N, Henderson J, Brooks S S, Jenkins E C.: Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 270:1569-1575, 1993. [PubMed: 8371467]
    Jenkins E C, Duncan C J, Sanz M M, Genovese M, Gu H, Schwartz-Richstein C, Lele K P, Salandi M L, Krawczun M S: Progress toward an internal control system for fragile-X induction by 5-fluorodeoxyuridine in whole-blood cultures. Pathobiology 58:236-240, 1990. [PubMed: 2147548]
    Useful guidelines are recommended.
    Aberration: Fragile sites
    Positive band
  • Castren M, Tervonen T, Karkkaainen V, Heinonen S, Castren E, Larsson K, Bakker C E, Oostra B, Akerman K.: Altered differentiation of neural stem cells in fragile X syndrome. PNAS 102:17834-17839, 2005. [PMC free article: PMC1308923] [PubMed: 16314562]
    de Vries B B A, Wiegers A M, Smits A P T, Mohkamsing S, Duivenvoorden H J, Fryns J P, Curfs L M G, Halley D J J, Oostra B A, van den Ouweland A M W, Niermeijer M F. : Mental status of females with an FMR1 gene full mutation. AJHG 58:1025-1032, 1996. [PMC free article: PMC1914633] [PubMed: 8651263]
    Aberration: Fragile sites
    MIM#: 309550
    Positive band
  • Einfeld S, Tonge B, Turner G.: Longitudinal course of behavioral and emotional problems in fragile X syndrome. AJMG 87:436-439, 1999. [PubMed: 10594885]
    Loesch D Z, Huggins R, Hay D A, Gedeon A K, Mulley J C, Sutherland G R: Genotype-phenotype relationships in fragile X syndrome: a family study. AJHG 53:1064-1073, 1993. [PMC free article: PMC1682311] [PubMed: 8213832]
    Mulley J C, Yu S, Gedeon A K, Donnelly A, Turner G, Loesch D, Chapman C J, Gardner R J M, Richards R I, Sutherland G R: Experience with direct molecular diagnosis of fragile X. J. Med. Genet. 29:368-374, 1992. [PMC free article: PMC1015984] [PubMed: 1619631]
    Nakamoto M, Nalavadi V, Epstein M P, Narayanan U, Bassell G J, Warren S T.: Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. PNAS 104: 15537-15542, 2007. [PMC free article: PMC2000537] [PubMed: 17881561]
    Yu S, Mulley J, Loesch D, Turner G, Donnelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M, Sutherland G R, Richards R I: Fragile-X syndrome: unique genetics of the heritable unstable element. AJHG 50:968-980, 1992. [PMC free article: PMC1682586] [PubMed: 1570846]
    Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley J C, Warren S T, Schlessinger D, Sutherland G R, Richards R I: Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181, 1991. [PubMed: 2031189]
    Increased size DNA sequences were identified in fragile X individuals. The size variation is within families, thus unstable. This probe provides a means to analyze pedigrees and is a diagnostic reagent for the fragile X genotype.
    Aberration: Fragile sites
    Index Terms: Fragile X DNA probe
    Positive band
  • Hegde M R, Chong B, Fawkner M, Lambiris N, Peters H, Kenneson A, Warren S T, Love D R, McGaughran J.: Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification. J. Med. Genet. 38:624-629, 2001. [PMC free article: PMC1734938] [PubMed: 11565550]
    A microdeletion of a 5 bp direct repeat. The patient expressed the protein product of the FMR-1 gene (FMRP).
    The patient was referred for fragile-X testing.
    Aberration: Interstitial deletion
    MIM#: 309550
    Chromosomal Aneuploidy: Xq-
  • Heitz D, Rousseau F, Devys D, Saccone S, Abderrahim H, Le Paslier D, Cohen D, Vincent A, Toniolo D, Della Valle G, Johnson S, Schlessinger D, Oberle I, Mandel J L: Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science 251:1236-1239, 1991. [PubMed: 2006411]
    Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette M F, Gilgenkrantz S, Jalbert P, Voelckel M A, Oberle I, Mandel J L: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. NEJM 325:1673-1681, 1991. [PubMed: 1944467]
    511 persons from 63 families were studied.
    A single CpG island was identified in the cloned region between markers DXS463 and DXS465 that appears methylated in mentally retarded fragile X males, but not in nonexpressing male carriers of the mutation nor in normal males.,Direct diagnosis by DNA analysis is now an efficient and reliable primary test for the diagnosis of the fragile X syndrome after birth, as well as for prenatal diagnosis and genetic counseling.
    Aberration: Fragile sites
    Index Terms: CpG island,Methylation
    Positive band
  • Holden J J A, Ed.: Special issue: X-linked Mental retardation, Part I. AJMG 83:221-351, 1999. [PubMed: 10208154]
    The conference report and several papers are published in this issue.
    Aberration: Fragile sites
  • Kahkonen M, Leisti J, Thoden C J, Autio S: Frequency of rare fragile sites among mentally subnormal schoolchildren. Clin. Genet. 30:234-238, 1986. [PubMed: 3780040]
    Case 1.
    46,XX,fra(X)(q27.3).
    Aberration: Fragile sites
    Positive band
  • Kremer E J, Yu S, Pritchard M, Nagaraja R, Heitz D, Lynch M, Baker E, Hyland V J, Little R D, Wada M, Toniolo D, Vincent A, Rousseau F, Schlessinger D, Sutherland G R, Richards R I: Isolation of a human DNA sequence which spans the fragile X. AJHG 49:656-661, 1991. [PMC free article: PMC1683130] [PubMed: 1882843]
    Sutherland G R, Gedeon A, Kornman L, Donnelly A, Byard R W, Mulley J C, Kremer E, Lynch M, Pritchard M, Yu S, Richards R I: Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. NEJM 325:1720-1722, 1991. [PubMed: 1944473]
    Aberration: Fragile sites
    Positive band
  • Mandel J L, Hagerman R, Froster U, Brown W T, Jenkins E C, Jacobs P A, Turner G, Lubs H A, Neri G: Fifth International workshop on the fragile X and X-linked mental retardation. Conference report. AJMG 43:5-27, 1992. [PubMed: 1605233]
    Sutherland G, Brown W T, Hagerman R, Jenkins E, Lubs H, Mandel J L, Nelson D, Neri G, Partington M W, Richards R I, Stevenson R, Turner G: Conference Report-Sixth International Workshop on the Fragile X and X-linked Mental Retardation. AJMG 51:281-293, 1994. [PubMed: 7942989]
    The conference was held between August 12 and 16, 1991. The special issue ie nos. 1/2 of 509 pages are devoted to this report (1992) entitled ''X-linked Mental Retardation 5".
    As the title implies this whole special issue (1994) is devoted to this topic (333 pages).
    Aberration: Fragile sites
    Positive band
  • Marshall I, Betensky B P, Goseco A, Flieder D, Vogiatzi M V.: Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. AJMG DOI=10.1002/ajmg.a.20350, 2003. [PubMed: 14699624]
    mos45,X[10]/46,XY[90].
    The proposita was evaluated at age 15 mo for developmental delay, dysmorphism, and clitoromegaly.
    Abnormal methylation and CGG repeats were demonstrated to confirm FMR1 at Xq27.3 in the proband and her mother..
    Aberration: Fragile sites
    Index Terms: Ambiguous genitalia,Mixed gonadal dysgenesis
  • Milunsky A, Huang X, Amos J A, Herskowitz J, Farrer L A, Wyandt H E: 46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies. AJMG 45:589-593, 1993. [PubMed: 8096117]
    Aberration: Fragile sites
    Positive band
  • Mulligan L M, Phillips M A, Forster-Gibson C J, Beckett J, Partington M W, Simpson N E, Holden J J A, White B N: Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. AJHG 37:463-472, 1985. [PMC free article: PMC1684592] [PubMed: 2988332]
    Aberration: Fragile sites
    Positive band
  • Novelli A, Bernardini L, Salpietro D C, Briuglia S, Merlino M V, Mingarelli R, Dallapiccola B.: Disomy of distal Xq in males: case report and overview. AJMG DOI=10.1002/ajmg.a.30088, 2004. [PubMed: 15214009]
    46,X,der(Y)t(X;Y)(q27.3;q11.22).
    The 8-year-old was markedly hypotonic, had several minor dysmorphic features including small penis, hypoplastic scrotum and small testes.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xq+;Yq-
  • Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas M F, Mandel J L: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102, 1991. [PubMed: 2031184]
    Phenotypic expression has been linked to abnormal cytosine methylation of a single CpG island, at or very near the fragile site. Probes adjacent to this island detected very localized DNA rearrangements that constituted the fragile X mutations, and whose target was a 550-base pair GC-rich fragment. Normal transmitting males had a 150- to 400-base pair insertion that was inherited by thier daughters either unchanged, or with small differences in size. Fragile X-positive individuals in the next generation had much larger fragments that differed among siblings and showed a generally heterogeneous pattern indicating somatic mutation. The mutated allele appeared unmethylated in normal transmitting males, methylated only on the inactive X chromosome in their daughters, and totally methylated in most fragile X males. However, some males had a mosaic pattern. Expression of the fragile X syndrome thus appears to result from a two-step mutation as well as a highly localized methylation.
    Aberration: Fragile sites
    Index Terms: Methylation,CpG island
    Positive band
  • Oostra B A, Verkerk A J M H: The fragile X syndrome: Isolation of the FMR-1 gene and characterization of the fragile X mutation. Chromosoma 101:381-387, 1992. [PubMed: 1618021]
    Oostra B A, Willemsen R.: The X chromosome and fragile X mental retardation. Cytogenet. Genome Res. 99:257-264, 2003. [PubMed: 12900573]
    Aberration: Fragile sites
    Positive band
  • Radhakrishna U, Shah V C, Highland H N, Chinoy N J, Sheth F J: A triple-X female with long arm deletion of one of the X-chromosomes associated with primary amenorrhoea: 47,XX,+del(X)(q27.3). Ann. Genet. 34:40-43, 1991. [PubMed: 1952792]
    47,XX,+del(X)(q27.3).
    The patient was a 25-year-old with primary amenorrhoea.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xq-
    Index Terms: Primary amenorrhea
    Positive band
  • Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont J-P, Munnich A, Vekemans M, Colleaux L.: Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Europ. J. Hum. Genet. 18: 285-290, 2010. [PMC free article: PMC2987214] [PubMed: 19844254]
    46,Y,dup(X)(q27.3q28), 5.1 Mb.
    Three males from a single family were studied. 100% of their cells had inactivated the duplicated X chromosome.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
    Index Terms: FMR1,MECP2
  • Romain D R, Chapman C J: Fragile site Xq27.3 in a family without mental retardation. Clin. Genet. 41:33-35, 1992. [PubMed: 1633644]
    46,fra(X)(q27.3)Y-Father.&47,XXX-Mother.
    Several individuals with the fragile X chromosome have no history of intellectual handicap nor any of the physical handicaps of the fra(X) syndrome.
    Aberration: Fragile sites
    Positive band
  • Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos J A G, Schorderet D F, Schaap T, Maccioni L, Russo S, Jacobs P A, Schwartz C, Mandel J L: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. AJHG 55:225-237, 1994. [PMC free article: PMC1918361] [PubMed: 8037202]
    The use of direct DNA testing for fragile X diagnosis as well as for carrier identification has been validated.
    Aberration: Fragile sites
    Positive band
  • Wahlstrom J, Steffenburg S, Hellgren L, Gillberg C: Chromosome findings in twins with early-onset autistic disorder. AJMG 32:19-21, 1989. [PubMed: 2705478]
    One triplet, one twin set were found to have the fra(X) chromosome among the 22 pairs tested.
    Aberration: Fragile sites
    MIM#: 209850
    Index Terms: Autis(m)(tic)
    Positive band
  • Webb T P, Bundey S, McKinley M: Missed prenatal diagnosis of fragile-X syndrome. Prenat. Diag. 9:777-781, 1989. [PubMed: 2616536]
    Aberration: Fragile sites
    Positive band
  • Wohrle D, Kotzot D, Hirst M C, Manca A, Korn B, Schmidt A, Barbi G, Rott H D, Poustka A, Davies K E, Steinbach P: A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of the fragile-X syndrome. AJHG 51:299-306, 1992. [PMC free article: PMC1682683] [PubMed: 1642231]
    Aberration: Fragile sites
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105963
Contents

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...