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CURSO BIOLOGIA PERÍODO 4

DISCIPLINA GENÉTICA BÁSICA
PROFESSOR CLEBSON PANTOJA PIMENTEL
ALUNO (O) NOTA
ATIVIDADE ALTERAÇÕES CROMOSSÔMICAS NUMÉRICAS

1. O estudo citogenética é uma das metodologias mais tradicionais em genética humana,
utilizada para a detecção de alterações cromossômicas numéricas e estruturais. Os
distúrbios cromossômicos constituem uma categoria importante de doenças genéticas,
respondendo por uma grande proporção significativa dos insucessos reprodutivos,
malformações congênitas e retardo mental.

Analise os cariótipos abaixo e responda o que se pede.

A) Qual a síndrome?

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B) Qual o cariótipo do paciente?

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C) Quais os principais sinais e sintomas clínicos?

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A) Qual a síndrome? ______________________________ ______________________________ B) Qual o cariótipo do paciente? ______________________________ C) Quais os principais sinais e sintomas clínicos? _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ A) Qual a síndrome? ______________________________ ______________________________ B) Qual o cariótipo do paciente? ______________________________ ______________________________ C) Quais os principais sinais e sintomas clínicos? _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ .

A) Qual a síndrome? ______________________________ ______________________________ B) Qual o cariótipo do paciente? ______________________________ ______________________________ C) Quais os principais sinais e sintomas clínicos? _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ A) Qual a síndrome? ______________________________ ______________________________ B) Qual o cariótipo do paciente? ______________________________ ______________________________ C) Quais os principais sinais e sintomas clínicos? _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ .

Nulissomia: _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ 3.2. 3. quando possível.3. Dê a definição dos termos abaixo e. Tetrassomia: _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ . exemplifique com as síndromes descritas anteriormente. Monossomia: _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ 3.2.1. Quais as principais causas das anomalias cromossômicas numéricas? _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ 3.4. Trissomia: _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ 3.

Faça um teto descrevendo as diferenças entre Aneuploidias e Euploidias? _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ 5. _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ _________________________________________________________________________ . Observe a gráfico abaixo e descreva a relação entre o risco de nascimento de bebês como síndrome da Down e idade materna.4.