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Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype

ABSTRACT This case report describes a fetus with a Jacobsen syndrome phenotype, caused by an unbalanced translocation t(5;11)(q21;q22) resulting from an inherited balanced translocation from one of the parents; it underscores the importance of undertaking prenatal diagnosis and genetic counseling in...

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Principais autores: Yuri Hasegawa, Yuriko Kitajima, Koh Nagata, Shoko Miura, Kiyonori Miura
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2025-08-01
coleção:Clinical Case Reports
Assuntos:
fetal growth restriction
Jacobsen syndrome
prenatal diagnosis
unbalanced translocation cardiac malformation
Acesso em linha:https://doi.org/10.1002/ccr3.70772
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