Medical Aspects of Developmental Biology

7/24/2019 Medical Aspects of Developmental Biology

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MEDICAL ASPECTS OF

DEVELOPMENTAL BIOLOGY


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DISEASES OF DEVELOPMENT


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GENETIC ERRORS OF HUMAN DEVELOPMENT

It is estimated that oneha!" to t#o thi$ds o" a!!h%man &on&e'tions do not de(e!o' s%&&ess"%!!)to te$m*

Man) o" these em+$)os e,'$ess thei$ a+no$ma!it)so ea$!) that the) "ai! to im'!ant in the %te$%s*

Othe$s im'!ant +%t "ai! to esta+!ish a s%&&ess"%!'$e-nan&)*

Th%s. most em+$)os a$e s'ontaneo%s!) a+o$ted.o"ten +e"o$e a #oman e(en /no#s she is'$e-nant 0Bo%e et a!* 12345*


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Usin- a sensiti(e imm%no!o-i&a! testthat dete&ts the '$esen&e o" h%man&ho$ioni& -onadot$o'in 0hCG5 as ea$!)as 3 o$ 2 da)s a"te$ "e$ti!i6ation.Edmonds and &o#o$/e$s 012375

monito$ed 117 '$e-nan&ies in no$ma!#omen*

O" these hCGdete$mined '$e-nan&ies.89 0a+o%t 42:5 #e$e not maintained*


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Most ea$!) em+$)oni& and "eta! demiseis '$o+a+!) d%e to &h$omosoma!a+no$ma!ities that inte$"e$e #ithde(e!o'menta! '$o&esses*

The$e a$e a!so de"e&ts that a$e notde!ete$io%s to the "et%s 0#hi&h doesnot de'end on o$-ans s%&h as the+$ain. /idne)s. and !%n-s #hi!e insidethe mothe$5 +%t that &an th$eaten !i"eon&e the +a+) is +o$n*


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;inte$ 01228< E'stein 7==35 has estimatedthat a''$o,imate!) 7*4: o" ne#+o$ns ha(ea $e&o-ni6a+!e +i$th de"e&t*

Con-enita! 0>'$esent at +i$th>5

a+no$ma!ities and !osses o" the "et%s '$io$to +i$th ha(e +oth int$insi& and e,t$insi&&a%ses*

Those a+no$ma!ities &a%sed +) -eneti&e(ents ma) $es%!t "$om m%tations.ane%'!oidies 0im'$o'e$ &h$omosome

n%m+e$5. and t$ans!o&ations 0O'it6 12395*


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E(en an e,t$a &o') o" the tin)&h$omosome 71 dis$%'ts n%me$o%sde(e!o'menta! "%n&tions*

This t$isom) 71 &a%ses a set o"anoma!ies?amon- them "a&ia! m%s&!e&han-es. hea$t and -%t a+no$ma!ities.and &o-niti(e '$o+!ems? &o!!e&ti(e!)/no#n as Down syndrome.

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Medical Aspects of Developmental Biology