Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)
- PMID: 47795
- DOI: 10.1111/j.1399-0004.1975.tb00332.x
Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)
Abstract
A girl is presented with "isochromosome" X mosaicism, 45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq). The "isochromosome" had an unusual extra band close to the centromere on one arm. The patient had some signs of Turner's syndrome, myopia and optic nerve atrophy.
Similar articles
-
Primary amenorrhea with a new mosaic 46,XXqi/47,XXqi Xp-. Consideration on the X isochromosome formation and X chromosome inactivation.Acta Genet Med Gemellol (Roma). 1977;26(1):63-9. doi: 10.1017/s0001566000010205. Acta Genet Med Gemellol (Roma). 1977. PMID: 71839
-
Dicentric X isochromosomes in man.J Med Genet. 1976 Dec;13(6):496-500. doi: 10.1136/jmg.13.6.496. J Med Genet. 1976. PMID: 1018308 Free PMC article.
-
Letter: X long-arm deletion with features of Turner's syndrome.Lancet. 1974 Feb 9;1(7850):210. doi: 10.1016/s0140-6736(74)92509-4. Lancet. 1974. PMID: 4129890 No abstract available.
-
[Turner's syndrome--correlation between karyotype and phenotype].Endokrynol Pol. 2005 Nov-Dec;56(6):986-93. Endokrynol Pol. 2005. PMID: 16821224 Review. Polish.
-
Hearing loss among patients with Turner's syndrome: literature review.Braz J Otorhinolaryngol. 2014 May-Jun;80(3):257-63. doi: 10.1016/j.bjorl.2013.08.002. Braz J Otorhinolaryngol. 2014. PMID: 25153112 Free PMC article. Review.
Cited by
-
Structural anomalies of the X chromosome and inactivation center.Hum Genet. 1981;56(3):401-8. doi: 10.1007/BF00274702. Hum Genet. 1981. PMID: 7239523 No abstract available.
-
A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.Case Rep Ophthalmol Med. 2018 Jun 28;2018:5969157. doi: 10.1155/2018/5969157. eCollection 2018. Case Rep Ophthalmol Med. 2018. PMID: 30050712 Free PMC article.
-
The Turner phenotype and the different types of human x isochromosome.Hum Genet. 1981;57(2):159-64. doi: 10.1007/BF00282013. Hum Genet. 1981. PMID: 7228026 No abstract available.
-
Stable dicentric autosome, tdic (8:22)(p23:p13), in a mentally retarded girl.J Med Genet. 1977 Feb;14(1):66-8. doi: 10.1136/jmg.14.1.66. J Med Genet. 1977. PMID: 839505 Free PMC article.
-
The origin and behavior of two isodicentric bisatellited chromosomes.Am J Hum Genet. 1977 May;29(3):294-300. Am J Hum Genet. 1977. PMID: 868876 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources