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An uninformative NIPT as an early indicator of cri‐du‐chat due to a chromosomal 5;18 translocation—An atypical presentation of a rare cytogenetic phenomenon

We present a patient with cri‐du‐chat syndrome secondary to a rare cytogenetic mechanism. Our patient was the product of a dichorionic diamniotic twin pregnancy initially flagged with soft markers on ultrasound and uninformative single‐nucleotide polymorphism (SNP)‐based noninvasive prenatal testing...

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Detalles Bibliográficos
Autores principales: Shukla, Devanshi, Dinunzio, Matthew, Colaiacovo, Samantha, Meybodi, Anahita Mohseni, Saleh, Maha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387510/
https://www.ncbi.nlm.nih.gov/pubmed/37529133
http://dx.doi.org/10.1002/ccr3.7732