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首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5 , CYFIP1 , NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound
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Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5 , CYFIP1 , NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound

机译：胎儿超声心动图，小头畸形和子宫内生长受限的胎儿的家族性15q11.2（BP1-BP2）微缺失的产前诊断，包括TUBGCP5，CYFIP1，NIPA2和NIPA1

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ObjectiveWe present prenatal diagnosis of a 15q11.2 (BP1-BP2) microdeletion encompassingTUBGCP5, CYFIP1, NIPA2 and NIPA1in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction (IUGR) on prenatal ultrasound.Case reportA 30-year-old, gravida 3, para 2, woman was referred to the hospital for amniocentesis because of fetal ventriculomegaly on prenatal ultrasound. Her husband was 31 years old. The couple had two healthy daughters, and there was no family history of mental disorders and congenital malformations. Amniocentesis revealed a karyotype of 46,XX. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 451.89-kb 15q11.2 microdeletion or arr 15q11.2 (22,765,628–23,217,514)?×?1.0 [GRCh37 (hg19)] encompassingTUBGCP5, CYFIP1, NIPA2andNIPA1. The parental karyotypes were normal. aCGH analysis on the DNAs extracted from parental bloods revealed a 402-kb 15q11.2 microdeletion or arr 15q11.2 (22,815,577-23,217,514)?×?1.0 (hg19) encompassingTUBGCP5, CYFIP1, NIPA2andNIPA1in the phenotypically normal father. The mother did not have any genomic imbalance. Level II ultrasound at 21 weeks of gestation revealed microcephaly and IUGR. The parents elected to terminate the pregnancy at 22 weeks of gestation, and a female fetus was delivered with a body weight of 448?g (10th centile) and a body length of 26?cm (3rd–10th centile) but no gross abnormalities.ConclusionFetuses with a 15q11.2 (BP1-BP2) microdeletion may present ventriculomegaly, microcephaly and IUGR on prenatal ultrasound, and aCGH is helpful for prenatal diagnosis under such a circumstance.
机译：目的我们对胎儿超声心动图，小头畸形和宫内生长受限（IUGR）的胎儿进行15q11.2（BP1-BP2）微缺失的产前诊断，其中包括TUBGCP5，CYFIP1，NIPA2和NIPA1。病例报告30岁，重力3第2段，由于产前超声检查胎儿室大，该妇女因羊膜穿刺术被转诊至医院。她的丈夫今年31岁。这对夫妇有两个健康的女儿，没有精神疾病和先天性畸形的家族史。羊膜穿刺术显示46，XX的核型。阵列比较基因组杂交（aCGH）对未培养的羊膜细胞提取的DNA的分析显示451.89-kb 15q11.2微缺失或arr 15q11.2（22,765,628–23,217,514）××1.0 [GRCh37（hg19）]，包括TUBGCP5，CYFIP1，NIPA2和NIPA1。亲本核型正常。对从亲本血液中提取的DNA的aCGH分析显示，在表型正常父亲中，有402-kb 15q11.2微缺失或arr 15q11.2（22,815,577-23,217,514）？×？1.0（hg19）涵盖了TUBGCP5，CYFIP1，NIPA2和NIPA1。母亲没有任何基因组失衡。妊娠21周时进行II级超声检查发现小头畸形和IUGR。父母选择在妊娠22周时终止妊娠，并以448？g（10％）的体重和26？cm（3-10％）的身长分娩了一名女性胎儿，但无明显异常。结论在胎儿超声检查中，具有15q11.2（BP1-BP2）微缺失的胎儿可能出现脑室肥大，小头畸形和IUGR，aCGH在这种情况下有助于产前诊断。

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