Prenatal diagnosis and genetic etiology analysis of a fetus with nemaline myopathy / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
;
(12): 227-230, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-933907
ABSTRACT
We reported a fetus with limb abnormalities and abnormal ultrasound soft markers diagnosed with nemaline myopathy. A pregnant woman (G1P0) underwent amniocentesis at 18 +2 gestational weeks due to thickened nuchal translucency suggested by ultrasound at 13 +5 gestational weeks. Karyotyping and single nucleotide polymorphism array of the amniotic fluid cells showed no fetal abnormalities. However, ultrasonographic reexaminations at 23, 28, and 28 +1 weeks indicated limb abnormalities and thickened nuchal fold, and the pregnant woman chose to terminate the pregnancy at 29 +2 gestational weeks. Whole exome sequencing showed compound heterozygous mutations of c.602G>A (p.W201*) and c.1516A>C (p.T506P) in the KLHL40 gene inherited from the mother and the father, respectively, resulting in nemaline myopathy type 8.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
/
Estudio de etiología
Idioma:
Chino
Revista:
Chinese Journal of Perinatal Medicine
Año:
2022
Tipo del documento:
Artículo
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