disciplina de genética humana
TRANSCRIPT
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Defeitos
congênitos
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Esparta
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Histórico
Século XIX – Eugenia
Décadas de 30 e 40 - Nazismo
Década de 30 - Comissão Central Brasileira de
Eugenia
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Defeitos
congênitos
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Alterações “maiores”
Alterações “menores”
3 ou + menores, procurar maior
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1. Morfogênese incompleta (agenesia, hipoplasia)
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1. Morfogênese incompleta (agenesia, hipoplasia)
2. Fechamento incompleto (fendas)
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1. Morfogênese incompleta (agenesia, hipoplasia)
2. Fechamento incompleto (fendas)
3. Separação incompleta (sindactilia)
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1. Morfogênese incompleta (agenesia, hipoplasia)
2. Fechamento incompleto (fendas)
3. Separação incompleta (coração, sindactilia)
4. Excesso (polidactilia, apêndice pré-auricular)
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Normal
Malformação
Defeito morfológico de um órgão, parte de um órgão
ou de uma área do corpo, resultante de um processo
de desenvolvimento intrinsecamente anormal.
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Síndrome de
Down
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Anemia de Fanconi
(Pancitopenia de Fanconi)
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Normal
Malformação
Disrupção
Defeito devido à interferência externa com o
desenvolvimento normal (necrose).
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Talidomida
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Rubéola
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Normal
Malformação
Disrupção
Deformidade
Forma ou posição anormal de uma parte do corpo,
causada por força mecânica.
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Fator mecânico externo
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Fator mecânico interno
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Displasia
Normal
Malformação
Disrupção
Deformidade
Desorganização tecidual.
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Osteogênese Imperfeita
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Displasia óssea
Osteogênese Imperfeita
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Acondroplasia
Aa Aa
?
AA Aa Aa aa
Displasia óssea
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Displasia ectodérmica
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Síndrome
Alteração 1
Alteração 2
Alteração 3
Etiopatogenia
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Síndrome de Down
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Álcool
Síndrome Alcoólica Fetal
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Sequência
Alteração 1 Alteração 3
Alteração 2
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Agenesia LA
Renal
Hipoplasia
pulmonar
Sequência de Potter
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Associação
Alteração (a) Alteração (b)+
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V A T E R
V AC T E RL
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Normal
Malformação
Disrupção
Defeito devido à interferência externa com o
desenvolvimento normal (necrose).
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Ambientais
Ambientais/
Teratógenos
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• AGENTES INFECCIOSOS : Toxoplasmose, Sífilis, Citomegalovírus, Rubéola
Ambientais
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Vírus da Zika
Ambientais
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Lues (sífilis) congênita
Ambientais
Nariz em sela
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Lues (sífilis) congênita
Tíbia em sabre
Dentes de Hutchinson
Ambientais
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Toxoplasmose
Ambientais
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Rubéola
Ambientais
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•FATORES MATERNOS : Hipertermia, Diabetes
Ambientais
Regressão caudal
(diabetes)
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•AGENTES FÍSICO-QUÍMICOS : Radiação, Talidomida, Hidantoína, Aminopterina (MTX), Misoprostol (Cytotec), Álcool
Ambientais
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Talidomida
Ambientais
Focomelia
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Aminopterina (MTX)
Ambientais
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Hidantoína
Ambientais
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Warfarin
Ambientais
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Misoprostol (Cytotec)
Ambientais
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Ambientais
Síndrome Alcoólica Fetal
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Thompson e Thompson – Genética Médica
1. Aspectos Genéticos do Desenvolvimento
(Genética do Desenvolvimento na Prática Clínica)
2. Genética dos Distúrbios com Herança Complexa
- Particularidades da observação clínica nas
moléstias genéticas. In: Semiologia Geral
e Especializada.