Post on 26-Feb-2018
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Basic Medical Education Programme
School of MedicineGadjah Mada University
CONGENITAL MALFORMATIONS,
TERATOLOGY,HERMAPHRODITISM
dr. E. Suryadi, SUSCHOOL OF MEDICINE GMU
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CONGENITAL MALFORMATION (CM) :
Are anatomical abnormalitie!reent at birt"
Ma# be macroco!ic or microco!ic
On $r%ace or &it"in t"e bo'#
INTR!U"TIN
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TERATOLOG I t"e branc" o% embr#olo# &"ic"
'eal &it" abnormal 'e*elo!ment an'
Conenital Mal%ormation
HERMA+HRODITISM
Error in e, 'e*elo!ment ma# re$lt in
*ario$ 'eree o% interme'iate e,
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E+IDEMIOLOG AND CAUSES OF CM Abo$t -./ o% 'eat" in neonatal !erio' are
attrib$te' to CM
Abo$t 0/ o% one #ear ol' in%ant "a*e CM
1 CAUSES
-2 Genetic %actor : c"romoomal abnormalitie an'
m$tant ene
32 En*ironmental %actor
12 Combination or interaction t"e enetic %actor an'en*ironmental %actor (m$lti%actor)
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Abo$t one o% 344 ne& born in%ant
T&o 5in' o% c"ane : n$merical an'
tr$ct$ral
C"ane in c"romoome n$mber re!reent
eit"er ane$!loi'# or !ol#!loi'#
Ane$!loi'#6 an# 'e*iation %rom t"e 'i!loi'6
ma# be "#!o'i!loi' or "#!er'i!loi'
"#RMSM$%
$BNRM$%ITIES
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-2 MONOSOM
Embr#o miin a c"romoome $$all#
'ie
Abo$t 78 / at Embr#o lac5in a e,
c"romoome alo 'ie an' 1/ (abo$t 1 in
-42444 ne& born %emale) "a*ec"aracteritic o% T$rner9 #n'rome or
o*arian '#enei
NUMERI"$%"#RMSM$%
$BNRM$%ITIES
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32 TRISOM I% t"ree c"romoome are !reent intea' o% t"e
$$al !air
Ca$e o% triom# i non 'i$nction '$rinmeioi
A$toomal triom#
3- triom# (Do&n9 #n'rome) - : 044
-; triom# (E'&ar'9 #n'rome) - : 1144
-1 < -. triom# (+ata$9 #n'rome) - : ..44
Se, c"romoomal triom#
=86 >>> %emale - : -444 mentall# retar'e'
=86 >> Male - : .44 5line%elter #n'rome
=86 > Male - : -444 !eronalit# 'ior'er
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12 TETRASOM AND +ENTASOM Ha*e %o$r or %i*e e, c"romoome < mental
retar'ation an' !"#ical im!airment
=2 MOSAICISM +eron &it" t"i con'ition "a*e t&o or more cell
line &it" 'i%%erent 5ar#ot#!e (=0 >> ? =. , 4 ? =8>>>)
T"e a$toome an' t"e e, c"romoome ma# bein*ol*e'
U$all# t"e mal%ormation are le erio$
U$all# arie b# non 'i$nction '$rin earl#
clea*ae 'i*iion
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.2 +OL+LOID
+ol#!loi' cell contain m$lti!le o%
t"e "a!loi' n$mber o% c"romoome
(I2e : 076 73)
A ini%icant ca$e o% !ontaneo$
abortion
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Re$lt %rom c"romoome brea5
In'$ce b# *ario$ en*ironmental %actor
T"e t#!e o% abnormalit# &"ic" re$lt 'e!en'
$!on &"at "a!!en to t"e bro5en !iece
@in' o% tr$ct$ral abnormalitie
Tranlocation '$!lication
'eletion ioc"romoome
a rin c"romoome
"#RMSM$%STRU"TUR$%
$BNRM$%ITIES
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Rarer t"an n$merical an' tr$ct$ral
c"romoomal abnormalitie
Mot m$tant ene 'o not ca$e CM to
e,!re 'e!en' on 'ominant or recei*e
ene
E,am!le6 'ominant: ac"on'ro!laia an'!ol'act#l#B recei*e: conenital a'renal
"#!er!laia6 microce!"al#6 an'
'entinoenei im!er%ecta
M$%&RM$TIN "$USE! B'MUT$NT GENES
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Teratoen i aent ma# in'$ce CM &"entr$ct$re are 'e*elo!in
@in' o% teratoen
-2 ariet# o% c"emical : !oion6 'r$6in'$trial '#e
32 In%ectio$ aent : r$bella6 to,o!lamoi6ric5ettia
12 +"#ical %actor : li5e >ra# an' ano,ia
=2 Mec"anical %actor : t"e amnionic %l$i'aborb mec"anical !re$re
M$%&RM$TIN "$USE! B'EN(IRNMENT$% &$"TRS
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D$rin t"e oranoenei !erio' (%rom 'a#
-. to 'a# 04)
T"i !erio' teratoenic aent ma# be let"al
or to !ro'$ce maor mor!"oloical
abnormalitie
SENSITI(E R "RITI"$%
PERI!S
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The teratogenic effect of medications variestemporally. That is the fet!s" s!scepti#ility
varies depending on the fet!s" appositecritical periods of development. $ifferent organs have different critical
periods altho!gh the interim from gestation
day 15 to day 60 is critical for many organs. The heart is most sensitive d!ring the third
and fo!rth %ee&s of gestation %hile thee'ternal genitalia are most sensitive d!ring
the eighth and ninth %ee&s. The #rain and s&eleton are al%ays sensitive
from the #eginning of the third %ee& to theend of pregnancy and the neonatal period.
TERATOGEN MALFORMATIONS
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TERATOGEN MALFORMATIONS
An'roenic Aent Et"iterone Nonet"iterone
ar#in 'eree o% mac$liniation o%
%emale %et$ B mot "a*e labial %$ionan' clitoral "#!ertro!"#
Antit$mor Aent Amino!terin
$ol%an(M#leran) G