Structural Aberrations of the X Chromosome in Man

Overview

Journal Hum Genet

Specialty Genetics

Date 1978 Apr 24

PMID 649155

Citations 15

Authors

E F DAVIDENKOVA

D K Verlinskaja

M V Mashkova

Affiliations

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Abstract

Among 209 patients with Shereshevsky-Turner syndrome, 69 women with structural aberrations of X chromosome were detected: 46,X,i(Xq) - 11; 45,X/46,X,i(Xq) - 24; 45,X/46,X,r(X) - 14; 45,X/46,X,f(X or Y) - 10; 45,X/46,X,del(Xq) - 4; 45,X/46,X,del(Xp) - 2; 45,X/46,X,idic(X) - 2; 46,X,idic(X) - 1; and 46,X,t(X,2) - 1. All the patients with structural abnormalities of X chromosome were short in stature, but in no group was it as low on the average as in 45,X cases. Somatic signs were noticed in all structural changes of X, but they were less frequent and less pronounced. In some patients with r(X) and i(Xq), spontaneous menstrual bleeding and breast development was found. The structurally abnormal X chromosome appears to be functionally inactive, the phenotype of patients with structural rearrangements being close to the phenotype of patients with X monosomy. At the same time, the abnormal X might have certain effects in early embryogenesis which mitigated the further development of the Shereshevsky-Turner syndrome.

Citing Articles

Extensive analysis of mosaicism in a case of Turner syndrome: the experience of 287 cytogenetic laboratories. College of American Pathologists/American College of Medical Genetics Cytogenetics Resource Committee.

Park J, Brothman A, Butler M, Cooley L, Dewald G, Lundquist K Arch Pathol Lab Med. 1999; 123(5):381-5.

PMID: 10235494 PMC: 6779318. DOI: 10.5858/1999-123-0381-EAOMIA.

X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.

Kuznetzova T, Baranov A, Ivaschenko T, Savitsky G, Lanceva O, Wang M J Med Genet. 1994; 31(8):649-51.

PMID: 7815426 PMC: 1050031. DOI: 10.1136/jmg.31.8.649.

Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

Zatz M, Vianna-Morgante A, Campos P, DIAMENT A J Med Genet. 1981; 18(6):442-7.

PMID: 7334502 PMC: 1048790. DOI: 10.1136/jmg.18.6.442.

Structural anomalies of the X chromosome and inactivation center.

Mattei M, Mattei J, Vidal I, Giraud F Hum Genet. 1981; 56(3):401-8.

PMID: 7239523 DOI: 10.1007/BF00274702.

The Turner phenotype and the different types of human x isochromosome.

Otto P, Vianna-Morgante A, Otto P, WAJNTAL A Hum Genet. 1981; 57(2):159-64.

PMID: 7228026 DOI: 10.1007/BF00282013.

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