anomalias dos cromossomos autossomos

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VIABILIDADE DAS ANEUPLOIDIAS E VIABILIDADE DAS ANEUPLOIDIAS E 
EUPLOIDIASEUPLOIDIAS
NATIVIVOS
TRISSOMIAS 
AUTOSSÔMICAS :
13, 18, 21 
8, 9, 14 e 22 (mosaico 
ou parcial)
OUTRAS 
POLISSOMIAS
NULISSOMIAS
EUPLOIDIAS
ABORTOS
Genética/DCB
 
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CAUSAS
1. Idade materna avançada (aneuploidias) 
mulheres 35 anos
homens 55 anos
2. Predisposição genética a não-disjunção 
(aneuploidias)
3. Radiações, drogas e vírus (estruturais)
 
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CaracterCaracteríísticas fenotsticas fenotíípicaspicas
Baixo p
eso ao 
nascer
RDNPM e físico
Baixa estatura
Microcefalia 
Micrognatia
Orelhas e olhos mal posicionados
Anomalias
 esqueléti
cas
Anom
alias 
de mã
os e 
pés, 
com 
padrõ
es de
rmato
glífico
s inco
muns
Cardiopatias congênitas
Malformações cerebrais
Malfo
rmaçõ
es do
 siste
ma
genito
urinár
io
 
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Aneuploidias - Alterações no número (falta ou excesso de alguns 
cromossomos da espécie)
causadas por erros nas divisões celulares
ABERRAABERRAÇÇÕES CROMOSSÔMICAS NUMÕES CROMOSSÔMICAS NUMÉÉRICASRICAS
CROMOSSOMOPATIAS AUTOSSÔMICAS
S. Down - 47,XX ou XY,+21 - 84%
S. Edwards - 47,XX ou XY,+18 - 8,4%
S. Patau - 47,XX ou XY,+13 – 5,9%
Mosaicismo 47,XX ou XY,+8/46,XX ou XY – 1,7%
Mosaicismo 47,XX ou XY,+9/46,XX ou XY
CROMOSSOMOPATIAS SEXUAIS
S. Turner - 45,X
S. Klinefelter - 47,XXY
S. Triplo X - 47,XXX
S. Tetra X - 48,XXXX
S. XYY - 47, XYY
 
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47,XY,+21
 
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Freqüência: 1/600 nascimentos
Hipotonia
Ponte nasal baixa
Fissuras palpebrais oblíquas
Língua protrusa e fissurada
Pescoço curto
Orelhas pequenas e de baixa implantação
Fácies achatada
Occipital achatado
Mãos e dedos curtos e largos
Clinodactilia de 5° dedo
Prega palmar única
 
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Trissomia simples do 21 – 95% dos casos de Síndrome 
de Down
47,XX,+21 ou 47,XY,+21
Mosaicismo – 2% (46,XX/47,XX,+21 ou 46,XY/47,XY,+21)
Translocação – 3% - t(14q21q/21q21q...)
Trissomia parcial do 21 - 46,XY,dup (21)(q22.2q22.3)
 
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Mão com prega única
Diferença de mãos caracterizando a prega única 
da mão direita
Mão mostrando hipoplasia de 2ª falange do 5º
dedo determinado pela prega única deste dedo
levando a clinodactilia do 5º dedo
 
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46,XX,t(21q21q)
 
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46,XY,t(14q21q)
 
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Freqüência igual ou superior a 90%
- Microcefalia, face achatada, retardo mental
Freqüência de 80 a 90%
- Fissuras palpebrais obliquas, reflexo de Moro ausente (em recém-nascidos), 
excesso de pele no pescoço (em recém-nascidos).
Freqüência de 70 a 80%
- Occipital achatado, braquicefalia, membros curtos, mão curtas e largas, 
dedos curtos, palato estreito e ogival.
Freqüência de 60 a 70%
- Falange média do 5o. dedo curta, ponte nasal baixa, boca geralmente 
entreaberta, anomalias de erupção e implantação dos dentes, displasia 
pélvica aos raios X (em recém-nascidos).
Freqüência de 50 a 60% 
- Orelhas displásicas (pequenas, de implantação baixa e malformadas), 
clinodactilia do 5o. dedo, língua escrotal.
Freqüência de 40 a 50%
- Prega transversal palmar única, espaço aumentado entre o 1o. e 2o. 
artelhos, pescoço curto e largo, pregas epicânticas internas.
Freqüência ainda não determinada precisamente, em geral acima de 40%
- Hiperelasticidade articular, hipotonia muscular, defeitos cardíacos (CIV).pdfMachine - is a pdf writer that produces quality PDF files with ease! 
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47,XY,+21/46,XY
 
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15 A 29 ANOS 1/1500
30 a 34 ANOS 1/800
35 a 39 ANOS 1/270
40 a 44 ANOS 1/100
ACIMA DE 45 ANOS 1/50
 
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Avaliação de defeitos cardíacos 
Exame oftalmológico
Níveis de hormônios tireoideanos
Teste de audição
Estudos de imagem (RX coluna vertebral - cervical) 
Hemograma anual (risco  de leucemia – 15 a 20%)
Estimulação precoce
 
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47,XY,+18
 
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47,XX,+18/46,XX
 
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Freqüência 1/6000 nascimentos
Predominância de meninas 4F:1M
Occipital proeminente
Boca pequena
Micrognatia e/ou retrognatia
Pescoço curto
Orelhas de baixa implantação e malformadas
Anomalias renais (rins em ferradura, ureteres duplos)
Hipertonia evidente nas mãos cerradas e nas pernas cruzadas
Retroflexão do hálux
Cardiopatias congênitas – 99%
Mãos fortemente fechadas
5% a 10% sobrevive ao 1º ano
 
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Lactente com Síndrome de Edwards
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Artelhos com hálux em “gatilho”
Pés em mata-borrão
 
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Face, displasia auricular e retrognatia
Mão expressando a sobreposição típica 
de dedos na Síndrome de Edwards
 
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Mosaico
www.caroleverett.cm/ 
Olma – faleceu com 10 anos
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47,XX,+18 
 
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47,XX,+13
 
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46,XY,t(13q;14q)
 
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Ocorrência 1/10.000
Microcefalia
Deficiência mental
Lábio e/ou palato fendido
Microftalmia ou anoftalmia
Nariz achatado
Pescoço curto
Orelhas de baixa implantação e malformadas (orelhas de fauno)
Anomalias cardíacas – 88%
Unhas das mãos estreitas e hiperconvexas
Polidactilia em mãos e pés
Escroto anormal
Calcanhar proeminente (cadeira de balanço)
Flexão dorsal do hálux
88% morre no 1º mês, só 5% sobrevive até o 6º mês 
 
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Recém-nascido, apresentando alterações craniofaciais, silhueta de rins
policísticos e malformações de membros superiores e inferiores com polidactilia 
 
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Freqüência 1:50.000 nascimentos
85% resultam de mutação nova
Choro típico de miado de gato
Face de lua
Hipertelorismo
Hipotonia muscular
Microcefalia
Face alongada (com o avançar da idade)
Grave retardo mental
 
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1/50.000 nascimentos (1M:2F)
Assimetria craniana
Microcefalia
Hipertelorismo
Retardo mental
Nariz largo
Lábio superior curto
Fenda labial e/ou palatina
Baixa implantação de orelhas
Hipotonia muscularwww.gulfkids.com
 
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Figura digitalizada do Livro "Smith - Padrões 
Reconhecíveis de Malformações Congênitas" 5ª ed. 
de Kenneth L. Jones publicado pela Editora Manole
1998
Deficiência mental leve 
(ou normal com retardo emocional)
Crescimento normal
Coloboma inferior da íris
Defeitos cardíacos (mais de 1/3)
Retorno venoso pulmonar anômalo
Atresia anal
Hipertelorismo leve
 
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Prader-Willi
Freqüência 1/15.000 
Retardo mental leve a moderado 
Hipotonia 
Diminuição da sensibilidade à dor
Obesidade 
Pés e mãos pequenas
Hipogonadismo
del 15q11q13 (pai) (60-70%)
Dissomia uniparental materna (20-
30%)
Criança com 3 anos de idade
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Ativo
Inativo
Deleção Deleção
AngelmanPrader-Willi
15 15 15 15
 
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Freqüência 1-15.000 a 1/30.000
Retardo mental severo (100%)
Riso inapropriado
del 15q11q13 (mãe) (70-75%)
Dissomia uniparental paterna (4%)
Microcefalia (>80%) 
Convulsões (>80%) 
Estrabismo (20-80%) 
Hipopigmentação de pele e olhos
Andar atáxico
 
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Colin Farrell e James (irmão – Sínd. de Angelman)
img2.timeinc.net
 
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FRA-X
 
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Mais freqüente forma de retardo mental hereditário em 
homens com uma freqüência em torno de 1/1000-1500 
Mutação - repetições de nucleotídeo instáveis (CGG).
Indivíduo normal tem de 6 a 54 repetições 
Homens e mulheres portadores da pré-mutação possuem 
54 a 200 repetições 
 
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Freqüência 1/2000 meninos
Freqüência 1/4000 meninas
Freqüência 1/260 portadoras
Retardo mental severo (100%)
Fácie triangular
Orelhas em abano
Macrorquidia
Microcefalia (>80%) 
Comportamento autista
Hiperatividade
Causa mais comum de retardo 
mental herdado
 
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Que síndrome é esta ?Que síndrome é esta ?
 
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Trigonocefalia
Occipital achatado
Fissura palpebral oblíqua para cima
Retardo mental de leve a moderado
Nariz curto
Micrognatia
Orelhas malformadas
Pescoço curto
Implantação baixa de cabelos
Prega simiesca 
 
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