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人类单亲二体性(UPD)的主要原因是减数分裂不分离,随后由三体或单体性“援救”。多数病例与高龄妊娠有关。本文报道1例早期妊娠检查发现14三体嵌合体后,对14染色体单亲二体性的检测。 1例42岁孕妇,孕4产3,超声检查单胎头臀距37 mm,相当孕10(3/7)周,与闭经天数一致。无畸形或智力迟钝家族史。基于孕妇年龄,孕11周取绒毛活检,发现14三体嵌合体,建议行羊膜腔穿刺术。孕14周时施术,取羊水25 ml,证实为14三体嵌合体,决定取
The main cause of human single-parent dyadic (UPD) is meiosis does not separate, followed by trisomy or monomer “rescue.” Most cases are related to advanced pregnancy. This article reports the detection of 14 trisomy 14 chromosomes in one case of early pregnancy examination. A 42-year-old pregnant women, 4 pregnant 3, ultrasound examination of single-head dorsum of 37 mm, quite pregnant 10 (3/7) weeks, consistent with the number of amenorrhea. Family history without deformity or mental retardation. Based on the age of pregnant women, 11 weeks pregnant to take villus biopsy and found 14 trisomy 14, recommended amniocentesis. Pregnancy 14 weeks when surgery, take amniotic fluid 25 ml, confirmed 14 trisomy 14, decided to take