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Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

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A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible… Click to show full abstract

A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna magna and a small area of calcification around the posterior horns. Testing was initiated to identify any underlying genetic cause.

Keywords: diagnosis perching; caused homozygous; diagnosis; syndrome caused; perching syndrome; prenatal diagnosis

Journal Title: Prenatal Diagnosis
Year Published: 2022

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