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Fragile X chromosome

MedGen UID:
609544
•Concept ID:
C0432482
•
Congenital Abnormality
SNOMED CT: Fragile X chromosome (205720009)

Professional guidelines

PubMed

Prenatal cytogenetic diagnosis of the fragile X chromosome: feasibility and speed of in situ clonal method in amniotic fluid cell tissue culture.
Shapiro LR, Wilmot PL, Andree LE
Am J Med Genet 1992 Apr 15-May 1;43(1-2):167-9. doi: 10.1002/ajmg.1320430127. PMID: 1605187
The fragile X syndrome: history, diagnosis, and treatment.
Hagerman RJ, McBogg P, Hagerman PJ
J Dev Behav Pediatr 1983 Jun;4(2):122-30. doi: 10.1097/00004703-198306000-00009. PMID: 6348096
Prenatal diagnosis of fragile X chromosome.
Lancet 1982 Jan 9;1(8263):99-100. PMID: 6119508

Recent clinical studies

Etiology

Girls with fragile X syndrome: physical and neurocognitive status and outcome.
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W
Pediatrics 1992 Mar;89(3):395-400. PMID: 1741210
Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome.
Freund LS, Reiss AL, Hagerman R, Vinogradov S
Arch Gen Psychiatry 1992 Jan;49(1):54-60. doi: 10.1001/archpsyc.1992.01820010054007. PMID: 1728251
Parental inheritance and psychological disability in fragile X females.
Reiss AL, Freund L, Vinogradov S, Hagerman R, Cronister A
Am J Hum Genet 1989 Nov;45(5):697-705. PMID: 2816940Free PMC Article
The prenatal detection of the fragile X chromosome: review of recent experience.
Jenkins EC, Brown WT, Wilson MG, Lin MS, Alfi OS, Wassman ER, Brooks J, Duncan CJ, Masia A, Krawczun MS
Am J Med Genet 1986 Jan-Feb;23(1-2):297-311. doi: 10.1002/ajmg.1320230123. PMID: 2937295
The strength of association between fragile (X) chromosome presence and mental retardation.
Silverman W, Lubin R, Jenkins EC, Brown WT
Clin Genet 1983 Jun;23(6):436-40. doi: 10.1111/j.1399-0004.1983.tb01978.x. PMID: 6684008

Diagnosis

Molecular genetic advances in fragile X syndrome.
Tarleton JC, Saul RA
J Pediatr 1993 Feb;122(2):169-85. doi: 10.1016/s0022-3476(06)80110-1. PMID: 8429429
Girls with fragile X syndrome: physical and neurocognitive status and outcome.
Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W
Pediatrics 1992 Mar;89(3):395-400. PMID: 1741210
Detection of the fragile X chromosome and other fragile sites.
Hecht F, Sutherland GR
Clin Genet 1984 Oct;26(4):301-3. doi: 10.1111/j.1399-0004.1984.tb01063.x. PMID: 6499245
The fragile X syndrome: the patients and their chromosomes.
De Arce MA, Kearns A
J Med Genet 1984 Apr;21(2):84-91. doi: 10.1136/jmg.21.2.84. PMID: 6371234Free PMC Article
The fragile X chromosome: current methods.
Hecht F, Jacky PB, Sutherland GR
Am J Med Genet 1982 Apr;11(4):489-95. doi: 10.1002/ajmg.1320110417. PMID: 6211983

Prognosis

Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome.
Freund LS, Reiss AL, Hagerman R, Vinogradov S
Arch Gen Psychiatry 1992 Jan;49(1):54-60. doi: 10.1001/archpsyc.1992.01820010054007. PMID: 1728251
The fragile X-chromosome: an evaluation of the results in a routine cytogenetic laboratory in the period 1981-1986.
Veenema H, Beverstock GC, de Koning T, Pearson PL, van de Kamp JJ
Clin Genet 1988 Jun;33(6):410-7. doi: 10.1111/j.1399-0004.1988.tb03473.x. PMID: 3168313
Dermatoglyphic findings in patients with fragile X-chromosome.
Hirth L, Singh S, Schilling S, Müller E, Goedde HW
Clin Genet 1985 Feb;27(2):118-21. doi: 10.1111/j.1399-0004.1985.tb00197.x. PMID: 3978845
The strength of association between fragile (X) chromosome presence and mental retardation.
Silverman W, Lubin R, Jenkins EC, Brown WT
Clin Genet 1983 Jun;23(6):436-40. doi: 10.1111/j.1399-0004.1983.tb01978.x. PMID: 6684008

Clinical prediction guides

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome.
Xie N, Gong H, Suhl JA, Chopra P, Wang T, Warren ST
PLoS One 2016;11(10):e0165499. Epub 2016 Oct 21 doi: 10.1371/journal.pone.0165499. PMID: 27768763Free PMC Article
Fragile X chromosome in institutionalized male adults with mental retardation.
Aoi T, Takashima H, Takada T, Okada T
Keio J Med 1989 Mar;38(1):36-9. doi: 10.2302/kjm.38.36. PMID: 2785613
Fragile X chromosome frequency is consistent temporally and within replicate cultures.
Jenkins EC, Kastin BR, Krawczun MS, Lele KP, Silverman WP, Brown WT
Am J Med Genet 1986 Jan-Feb;23(1-2):475-81. doi: 10.1002/ajmg.1320230139. PMID: 3953660
Expression of fragile X chromosome in human-rodent somatic cell hybrids.
Warren ST, Davidson RL
Somat Cell Mol Genet 1984 Jul;10(4):409-13. doi: 10.1007/BF01535636. PMID: 6589793
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation.
Proops R, Webb T
J Med Genet 1981 Oct;18(5):366-73. doi: 10.1136/jmg.18.5.366. PMID: 7328617Free PMC Article

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