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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| 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 |