Cystic hygroma: prenatal diagnosis and genetic counselling
Autor: | E. Dragone, M. De Marchi, G. Pagliano, Angelo O. Carbonara, M. Campogrande, C. Marchese, Elisa Savin, G. C. Dolfin, F. Carozzi, Elsa Viora |
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Jazyk: | angličtina |
Rok vydání: | 1985 |
Předmět: |
Adult
Male Pathology medicine.medical_specialty Genetic counseling Twins Aneuploidy Prenatal diagnosis Genetic Counseling Biology Fetus Pregnancy Prenatal Diagnosis Turner syndrome medicine Humans Family history Genetics (clinical) Ultrasonography Lymphangioma Obstetrics Infant Newborn Obstetrics and Gynecology Cystic hygroma medicine.disease Karyotyping embryonic structures Female Pregnancy Multiple Trisomy |
Popis: | Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained. |
Databáze: | OpenAIRE |
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