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Maladii_cromozomiale_gonozomale

Maladii_cromozomiale_gonozomale

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Published by: Medicalfiles on Apr 23, 2011
Copyright:Attribution Non-commercial

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04/23/2011

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SINDROMUL TURNER 
CARIOTIPFRECVENTA : 1/2500-3000 de nasteri dar 99 % dintre produsii de conceptie cu acestsindrom sunt avortati spontanFORMULA CITOGENETICA : 45, X-(omogen) sau 45,X-/46,XX(mozaic)- (variantaomogena prezinta afectare mai grava)VARIANTE CITOGENETICE : 46,X,i(Xq); 46,X,Xp-; 46,X,Xq-ETIOLOGIE : nondisjunctia in gametogeneza materna sau paternaSEMNE CLINICE :1.Intelect nomal sau retard mental uso2.Talie mica ( maxim 150cm)
3.
Dismorfie faciala : fata triunghiulara si ptoza palpebrala
4.
Pubertatea nu apare, nu se instaleaza caracterele sexuale secundare feminine,nedezvoltarea glandelor mamare, pilozitate axiala absenta, pubiana redusa , amenoree primara, gonade rudimentare , nefunctionale5.Sterilitate6.Semne tipice : torace in scut, mameloane departate , pterigium coli ( exces de piele lanivelul gatului).
 
7.Afectiuni cardiovasculare : coarctatie de aortaDIAGNOSTIC CLINIC :Stadiu de nou-nascut : greutate mica la nastere, pterigium coli, limfedeme palmare si plantareAdult :nu apar caracterele secundare feminine, inaltimea, pterigium coli,dismorfie facial.
LIMFEDEMPALMARLIMFEDEM
 
 
SINDROMUL KLINEFELTER 
CARIOTIPFRECVENTA : 1/1000 de nou-nascuti de sex masculin (cauza: aparitia unui cromozom Xexcedentar la sexul masculin).

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