Document Detail


Karyotype/phenotype correlation in females with short stature.
MedLine Citation:
PMID:  1563089     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 hypogonadism. 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.
Authors:
S A Temtamy; I Ghali; M A Salam; F H Hussein; E H Ezz; N Salah
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  41     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1992 Mar 
Date Detail:
Created Date:  1992-05-21     Completed Date:  1992-05-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  147-51     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, National Research Center, Cairo, Egypt.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Body Height / genetics*
Child
Child, Preschool
Female
Humans
Karyotyping*
Phenotype*
X Chromosome

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