1q21.1 deletion (Q59705): Difference between revisions

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A síndrome de microdeleção 1q21.1 é uma síndrome de deleção recorrente com manifestações clínicas variáveis, incluindo déficit intelectual variável e dismorfismo facial, mas sem o quadro clínico de trombocitopenia - síndrome de rádio ausente (TAR), que também é causada por deleções 1q21.1.
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1q21.1 microdeletion syndrome is a recurrent deletion syndrome with variable clinical manifestations including variable intellectual deficit and facial dysmorphism, but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome, which is also caused by 1q21.1 deletions.

Revision as of 07:13, 14 August 2026

1q21.1 microdeletion syndrome is a recurrent deletion syndrome with variable clinical manifestations including variable intellectual deficit and facial dysmorphism, but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome, which is also caused by 1q21.1 deletions.
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    English
    1q21.1 deletion
    1q21.1 microdeletion syndrome is a recurrent deletion syndrome with variable clinical manifestations including variable intellectual deficit and facial dysmorphism, but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome, which is also caused by 1q21.1 deletions.

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