Taiwanese journal of obstetrics & gynecology · 2026
A case of cystic hygroma with confined placental mosaicism of tetraploidy leading to noonan syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ito Yuki, Takahashi Ken, Nagao Erina, Kobayashi Masahisa, Samura Osamu, Okamoto Aikou
Аннотация
OBJECTIVE: To report the first case of cystic hygroma with confined placental mosaicism (CPM) of tetraploidy leading to Noonan syndrome.
CASE REPORT: At 12 weeks of gestation, fetal cystic hygroma was identified, and chorionic villus sampling (CVS) revealed tetraploid mosaicism of 46,XX[20]/92,XXXX[2]. The infant was born at 36 weeks of gestation with low-set ears and ventricular septal defects. Evaluation of the chromosomal mosaicism revealed CPM of tetraploidy. At 7 months of age, growth delay (-2 standard deviation) and left ptosis were noted, raising the suspicion of Noonan syndrome. Genetic testing revealed a heterozygous pathogenic KRAS variant (NM_004985.5:c.65A > G, p.Gln22Arg).
CONCLUSION: When mosaicism is detected by prenatal CVS, it is crucial to perform continuous phenotypic evaluation and detailed genetic testing after birth, even if the infant exhibits related symptoms.
CASE REPORT: At 12 weeks of gestation, fetal cystic hygroma was identified, and chorionic villus sampling (CVS) revealed tetraploid mosaicism of 46,XX[20]/92,XXXX[2]. The infant was born at 36 weeks of gestation with low-set ears and ventricular septal defects. Evaluation of the chromosomal mosaicism revealed CPM of tetraploidy. At 7 months of age, growth delay (-2 standard deviation) and left ptosis were noted, raising the suspicion of Noonan syndrome. Genetic testing revealed a heterozygous pathogenic KRAS variant (NM_004985.5:c.65A > G, p.Gln22Arg).
CONCLUSION: When mosaicism is detected by prenatal CVS, it is crucial to perform continuous phenotypic evaluation and detailed genetic testing after birth, even if the infant exhibits related symptoms.