Maladii cromozomiale autozomale

5/24/2018 Maladii cromozomiale autozomale

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SINDROMUL DOWN

CARIOTIP

47,XX,+21

Frecventa : 1/700 de nou-nascut, este cea !a "recventa #oa$a cro!o%o!a$a-&/4 dn 'rodus de

conce'te sunt e$!nat s'ontan

(ou-nascut s su)ar : *'otone !uscu$ara, *'er$atate artcu$ara, 'ro"$ "aca$ '$at, re"$e oro redus

re"$e de s'erere., "ante 'a$'e#ra$e !on)o$ode, eces de 'e$e 'e cea"a, 'e$vs ds'$a%c, '$ca s!ana

FORA CITO3(3TICA

O!o)en : 47,XX,+21 sau 47,X,+21

o%ac : 47,XX,+21/45,XX sau 47,X,+21/45,X

3TIOOI3

(on-ds6uncta cro!o%o!a$a n )a!eto)ene%a !aterna sau 'aterna

Trans$ocate ro#ertsonana 2 cro!o%o! care se unesc $a centro!er. : tro#2121. 89

A(IF3TARI CI(IC3

1 Retard !enta$ !croce"a$e.

2 ;e"ct de de%vo$tare staturo-'ondera$a statura scunda s o#e%tate.

& Tonus !uscu$ar *'otone.

TRISOMIA 21


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4 ;s!or"e "aca$a : occ'ut a'$at%at, !a$ar *'o'$a%c, *'erte$ors!, "ante 'a$'e#ra$e

!on)o$ode, e'cant, 'ete


3/16

SINDROMUL EDWARDS

CARIOTIP

Frecventa : 1/5000 de nou-nascut, a doua ca "recventa du'a ;o>n ?8 9 dntre 'rodus de conce'te

sunt e$!nate n cursu$ vet ntrauterne.

Rata de su'raveture sca%uta : 8-109 dntre nou-nascut su'ravetuesc varste de 1 an

(ou-nascut s su)ar : ds!or"e "aca$, )reutate !ca $a nastere, *'ertone, 'cor n 'o$et

FORA CITO3(3TICA

O!o)en: 47, XX, +1@ sau 47, X,+1@

o%ac: 47, XX, +1@/45,XX sau 47,X,+1@/45,X

3TIOOI3

(on ds6uncta cro!o%o!$or n )a!eto)ene%a !aterna sau 'aterna

Trans$ocate ro#ertsonana : tro# 1@:1@.

TRIOIA 1@
http://pediatricneuro.com/alfonso/1%20down%20foot.jpghttp://info.med.yale.edu/pediat/pedres/syndrome/week29-5.jpghttp://pediatricneuro.com/alfonso/1%20down%20foot.jpg


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A(IF3TARI CI(IC3

1 Retard !enta$ !croce"a$e.

2 ;e"ct de de%vo$tare staturo- 'ondera$

& Tonus !uscu$ar *'ertone.

4 ;s!or"e "aca$a: occ'ut 'roe!nent, !cro"ta$!e, !cro)nate sau retro)nate,'ro"$ de

'asare.,urec* 6os nserate, *'erte$ors!, "ante 'a$'e#ra$e scurte s or%onta$e

8 e!#re : de)ete su'ra'use 2 cu 8 s & cu 4., 'cor n 'o$et ca$caneu 'roe!nent.

5 ;urata de vata : 5 $un 'ana $a 2 an

7 Ano!a$ vscera$e )rave : ;A-;=

@ a$"or!at asocate : )ento-urnare : ureter du#$u a)ene%e rena$a un$atera$a, c'tor*de $a

#aet s *'o'$a%e $a#a$a s ovarana $a "ette

OCCIPT PRO3I(3(T

R3CI BO I(3RAT3

PROFI ;3 PA

;33T3 PRAP3

PICIOR I( PIO3T


5/16

SINDROMUL PATAU

CARIOTIP

Frecventa : 1/4000-1/10000 de nou-nascut

FORA CITO3(3TICA

O!o)ena : 47,XX,+1&sau 47,X,+1&

o%ac : 47,XX, +1&/45,XX sau 47,X,+1&/45,X

3TIOOI3

(on ds6uncta cro!o%o!a$a n )a!eto)ene%a !terna sau 'aterna

TRIOIA 1&


6/16

Trans$ocate ro#ertsonana tro# 1&1&.

A(IF3TARI CI(IC3

1 croce"a$e , de"ecte a$e sca$'u$u, "runte testa, *'erte$ors!, ano!a$ ocu$ar !cro"ta$!e

sau ano"ta$!e, anrde, cataracta., nas $at s a'$at%at, des'catura $a#o-'a$atna,!cro)nate,urec* !a$"or!ate s 6os nserate, *e!an)oa!e ca'$are $a nve$eu$ "ete, "runt s

ce"e

2 e!#re : 'o$dact$e sau sndact$e, ca!'todact$e contracture artcu$ara., c$nodact$a

de)etu$u 8, '$ca s!ana, trradus aa$ dsta$

& a$"or!at asocate : cardace :;A-;=, rnc* 'o$c*stc, du'$cate rena$a

4 u'raveture : 'ana $a 4-5 $un

DEFECT DE

CHEILOGNATOPALATOSC

POLIDACTILIE
http://medgen.genetics.utah.edu/photographs/diseases/high/peri008.jpghttp://medgen.genetics.utah.edu/photographs/diseases/high/peri007.jpghttp://medgen.genetics.utah.edu/photographs/diseases/high/69a.jpghttp://info.med.yale.edu/pediat/pedres/syndrome/week15-2.jpg


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TRISOMIA 8 IN MOZAIC

CARIOTIP

Cauza : a'arta unu cro!o%o! @ ecedentar ntr-un anu!t 'rocent a$ ce$u$e$or restu$ avand un nu!ar

nor!a$ de cro!o%o! Trso!a @ o!o)ena nu este va#$a datorta "a'tu$u ca cro!o%o!u$ @ are ta$e

!are

eu$ !ascu$n este !a "recvent a"ectat decat ce$ "e!nn

'eranta de vata de o#ce nor!a$a

FORA CITO3(3TICA

CICLOPIE
http://medgen.genetics.utah.edu/photographs/diseases/high/peri009.jpg


8/16

Fe!e : 47,XX, +@/45,XX


9/16

FOA CITO3(3TICA

O!o)en : 45,XX,4'- sau 45,X,4'-

o%ac: 45, XX, 4'-/45,XX sau 45, X, 4'-/45,X

A(IF3TARI CI(IC3

1 Retard !nta$ 'ro"und

2 ;s!o"e crano-"aca$a caracterstca : !croce"a$e, "runte na$ta, )$a#e$a 'roe!nenta,

*'erte$ors! casca de ra%#onc )rec., e'cant, )ura cu co$tur$e orentate n 6os, !cro)nate,

urec* s$a# $o#u$ate cu tu#ercu$ 'reaurcu$ar

& Tonus !uscu$ar, *'otone severa !a a$es $a !e!#re$e n"eoare

4 e!#re : *'o'$a%a 'o$ce$u sau/s a *a$uce$u, !a$"or!at a$e verte#re$or s coaste$or,

ntar%erea os"car, '$ca s!ana 28 9.

8 a$"or!at asocate : %a&ia%': ;A-;=, pu"monaa: $o#u$ate 'u!onara anor!a$a, as!o-

in!'s!ina"' )*erne o!#$ca$a, a)ene%a ve%c #$are, 'ni!o-uina')a)ene%e rena$a

un$atera$a, $a #aet cr'tor*de ar $a "ette a)ene%e va)na$a de co$ utern sau uter

HIPOTONIA

MEMBRELOR

NOU-NASCUT

DISMORFIE FACIALA

CARACTERISTICA

GREUTATE MICA LA

NASTERE

HIPOTONIE SEVERA
http://en.wikipedia.org/wiki/File:Wolf-hirschhorn.jpg


10/16

TRISOMIA #p

Frecventa : 1/200000 de nou-nascut

Peroada de nou-nascut s su)ar : ds!or"e "aca$a !acrosto!e, nas de #oer., )reutate !ca $a

nastere, *'otone

FORA CITO3(3TICA

45,XX,4'+ sau 45,X,4'+

A(IF3TARI CI(IC3

1 Retard !nta$

2 ;s!or"e crano-"aca$a : !croce"a$e, "acees nta$ rotund care devne a$un)t s usor

ttrun)*u$ar, *'erte$ors!, "ante 'a$'e#ra$e ant!on)o$ode, stra#s!, nas de #oer,

!acrosto!e, )at scurt

& c*e$et : sco$o%a, varsta osoasa ntar%ata

BOSE FRONTALE

HIPERTELORISM

COMISURI LABIALE ORIENTATE


11/16

trso!a 4', du'$cate nversa varsta 2 an.

TRISOMIA *p

Frecventa : este cea !a "recventa dntre trso!$e 'arta$e

(ou-nascut : )reutate !ca $a nastere, !cro)nate, eno"ta$!e oc* ca%ut n or#te.

FORA CITO3(3TICA :

45,XX,?'+ sau 45,X,?'+ o!o)en.

45,XX,?'/45,XX sau 45,X,?'+/45,X !o%ac.

Fenot'

Retard !nta$


12/16

;s!or"e crano-"aca$a : !croce"a$e, !cro)nate,eno"ta$!e,"ante 'a$'e#ra$e ant!on)o$ode,

*'erte$ors!, nas #u$#os, #u%a su'eroara su#tre s co!sura $a#a$a ca%uta, urec* !ar, s$a#

$o#u$ate, de'artate de ca'

e!#re: !an !c cu c$nodact$e, *'o'$a%e de "a$an)e s un)*a$a, 'coare !c cu "a$an)a

dsta$a a *a$uce$u scurta s trun)*u$ara

a$"or!at asocate : cardace, uro-)enta$e cr'tor*de.

trso!a ?'

trso!a ? n !o%ac

MONOSOMIA +8p

Frecventa: ano!a$e cro!o%o!a$a rara

(ou-nascut s su)ar : )reutate !ca $a nastere, urec* !ar de'rtate de ca', 'to%a '$eoa'e su'eroare

FORA CITO3(3TICA

45,XX,1@'- sau 45,X,1@'-

Fenot':


13/16

Retard !nta$ cu ntar%erea $!#a6u$u

;s!or"e crano-"aca$a: !croce"a$e, "aces rotun6t, radacna nasu$u a'$at%ata, *'erte$ors!,

e'cant, !acrosto!e, ano!a$ dentare, !cro)nate,urec* !ar 6os !'$antate, de'artate de ca'

at scurt s 'a$!at, torace $att n "or!a de scut cu !a!e$oane$e dstantate

c*e$et : !an ca #utucu$D, c$nodact$e,sndact$e

a$"or!at )enta$e : !cro'ens, cr'tor*de seu$ !ascu$n.

MONOSOMIA +8 ,

Frecventa :ano!a$e cro!o%o!a$a rara

(ou-nascut s su)ar : )reutate !ca $a nastere, *'o'$a%a eta6u$u !6$ocu a$ "ete, )ura de 'esteD,

!a$"or!at a$e !e!#re$or

FORA CITO3(3TICA : 45,XX,1@E- sau 45,X,1@E-

Fenot' :

Retard !nta$

;s!or"e crano-"aca$a : !croce"a$e, #a%a nasu$u a'$at%ata, *'erte$ors!, !cro"ta$!e,

e'cant, )ura cu #u%a su'eroara rotun6ta s co$tur$e ca%ute, *e$ s antetra)us 'roe!nent

tatura scunda

e!#re :de)ete$e a$un)te, 'o$ce$e !'$antat 'ro!a$

a$"or!at asocate : cardace , )enta$e *'o)ene%a $a#$or $a seu$ "e!nn., atre%a

conductu$u audtv etern cu surdtate

SINDROMUL OCHI DE PISICA.

CARIOTIP


14/16

Freventa : 1/74000 de nou-nascut

(ou-nascut s su)ar : co$o#o!a, "osete sau tu#ercu$ 'reaurcu$ar,*'erte$ors!Trasatur "enot'ce cu un

)rad rdcat de vara#$tate

FORA CITO3(3TICA : 47 ,XX,+!ar sau 47, X,+!ar

Fenot'

Retard !nta$ !oderat

Ano!a$ ocu$are co$o#o!a vertca$a a rsu$u, corode s /sau a retne

;s!or"e crano-"aca$a : *'erte$ors! , "ante 'a$'e#ra$e ant!on)o$ode, !cro)nate urec*

!a$"or!ate cu "osete sau tu#ercu$ 'reurcu$ar

a$"or!at asocate : as!o-in!'s!ina"': atre%e ana$a, %a&ia%', 'na"': a)ene%e rena$a,

rnc* 'o$c*stc

SINDROMUL LE/EUNE ( Sin&omu" Ci &u %0a!1 Monosomia pa!ia"a 2p$


15/16

CARIOTIP

FORA CITO3(3TICA

45,XX,8'- sau 45, X,8'-

Frecventa : 1/20000-80000 de nou- nascut

A(IF3TARI CI(IC3

1Peroada de nou- nascut

ds!or"e "aca$a caracterstca, )reutate !ca $a nastere, '$ans ase!anator cu ce$ a$ !eunatu$u

de 'sca consderat a " 'ato)no!onc datorat *'o'$a%e $arn)ene s as!etre cor%$or voca$e-

ds'are n 6uru$ varste de do an

*'otone

ds!or"e crano-"aca$a caracterstca : !croce"a$e, "ata rotunda cu o#ra6 'roe!nent,

*'erte$ors!, e'cant, "ante 'a$'e#ra$e orentate n 6os s n a"ara, co$tur$e )ur ca%ute,

!cro)nate, urec* 6os nserate

!a$"or!at asocate : cardace, )ento-urnare cr'tor*de., )astro-ntestna$e

'$ca s!ana s un nu!ar crescut de arcur s #uc$e $a nve$u$ de)ete$or

2Peroada co'$are

!croce"a$e, "ata n)usta as!etrca, *'er$atatea artcu$ate !and#u$are

retard !enta$

APARE DELETIA

PARTIALA A


16/16

sco$o%a

&Peroada ado$escente

nas'rrea trasatur$or "ete cu arcade su'raor#ta$e 'roe!nente s oc* n"undat n or#te

'u#ertatea se nsta$ea%a de o#ce $a t!', s'er!ato)ene%a 'oate " a"ectata

COLTURILE GURII

HIPERTELORIS

EPICANT

FATA ROTUNDA

CU OBRAJII

PROEMINENTI

Maladii cromozomiale autozomale

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