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Karyotype/phenotype correlation in females with short stature
Author(s) -
Temtamy Samia A.,
Ghali Isis,
Salam Mouchira A.,
Hussein Fawzia H.,
Ezz Eman H. A. Aboul,
Salah Nermin
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03652.x
Subject(s) - karyotype , turner syndrome , x chromosome , short stature , phenotype , biology , genetics , somatic cell , chromosome , medicine , endocrinology , gene
Temtamy SA, Ghali I, Salam MA, Hussein FH, Ezz EHAA, Salah N. Karyotype/phenotype correlation in females with short stature. Clin Genet 1992:41: 147–151. We studied 60 females who presented with short stature. The main aim was to determine the effect of karyotype variation on phenotype. A somatic feature score was calculated for each case depending on the presence of 17 clinical somatic changes known to occur in Turner syndrome. Karyotype studies showed the following results: 45, X (n = 22): 46, XX (n= 11); 45, X/ 46, XX (n= 10); 46, XX/46, Xi(Xq) (n = 4); 46, XX/46, XXq‐ (n = 3); 46, XX/ 46, XXp‐ (n = 2); 46, Xi(Xq) (n = 2); 45, X/46, Xi(Xq) (n = 2); 46, XXp‐(n= 1); 46, XX/47, XXX (n= 1); 46, XXq‐ (n= 1); 45, X/46, X(ry) (n=1). Karyotype/phenotype correlation showed the gradation of severity of clinical phenotype to be related to the number of X chromosomes. The highest somatic scores and the most severe clinical manifestations were noted in cases of pure 45, X Turner and the mildest in 46, XX/ 46, XX(str) mosaics or pure 46,XX, including hypergonadotrophic hypo‐gonadism. Our findings revealed a dosage effect of the X chromosome on phenotype, thus confirming that partial X chromosome inactivation modifies somatic and pubertal development. Our results also support both the additive and interactive hypotheses of karyotype/phenotype correlation.