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Abstract：
OBJECTIVE: We present prenatal diagnosis of a de novo 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound.
METHODS: A 32-year-old woman underwent amniocentesis at 28 weeks of gestation because of fetal micrognathia and bilateral pyelectasis on prenatal ultrasound. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 19q13.42q13.43 (55,028,722-56,680,564) × 1.0 [GRCh37 (hg19)] or a 1.651-Mb microdeletion encompassing 44 Online Mendelian Inheritance in Man (OMIM) genes including NLRP7, GP6, TNNT1, TNNI3 and DNAAF3. The parents did not have such a deletion and decided to continue the pregnancy. At 37 weeks of gestation, a 2560-g female baby was delivered by cesarean section because of oligohydramnios and decreased fetal movements. The baby manifested cleft palate, micrognathia and retrognathia at birth. She was doing well at age three months. Her body weight was 5.3 Kg (15th-25th centile), and body length was 59.2 cm (25th-50th centile). Renal sonogram showed bilateral mild pelvic dilation. She manifested no psychomotor retardation and no other internal organ abnormalities during pediatric follow-ups.
CONCLUSIONS: A 19q13.42-q13.43 microdeletion can be associated with micrognathia, retrognathia, cleft palate and bilateral pyelectasis at birth.
METHODS: A 32-year-old woman underwent amniocentesis at 28 weeks of gestation because of fetal micrognathia and bilateral pyelectasis on prenatal ultrasound. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 19q13.42q13.43 (55,028,722-56,680,564) × 1.0 [GRCh37 (hg19)] or a 1.651-Mb microdeletion encompassing 44 Online Mendelian Inheritance in Man (OMIM) genes including NLRP7, GP6, TNNT1, TNNI3 and DNAAF3. The parents did not have such a deletion and decided to continue the pregnancy. At 37 weeks of gestation, a 2560-g female baby was delivered by cesarean section because of oligohydramnios and decreased fetal movements. The baby manifested cleft palate, micrognathia and retrognathia at birth. She was doing well at age three months. Her body weight was 5.3 Kg (15th-25th centile), and body length was 59.2 cm (25th-50th centile). Renal sonogram showed bilateral mild pelvic dilation. She manifested no psychomotor retardation and no other internal organ abnormalities during pediatric follow-ups.
CONCLUSIONS: A 19q13.42-q13.43 microdeletion can be associated with micrognathia, retrognathia, cleft palate and bilateral pyelectasis at birth.
摘要：
目的：我们在产前超声检查中，对患有小颌畸形和双侧肾盂扩张的胎儿进行了从头1.651-Mb19q13.42-q13.43微缺失的产前诊断。
方法：一名32岁女性在妊娠28周时因胎儿小下颌畸形和产前超声检查双侧肾盂不张而进行了羊膜穿刺术。羊膜穿刺术显示核型为46，XX。对从未培养的羊膜细胞中提取的DNA进行的同时阵列比较基因组杂交（aCGH）分析显示了arr19q13.42q13.43（55,028,722-56,680,564）×1.0[GRCh37（hg19）]或1.651Mb微缺失的结果，包括44个在线孟德尔人遗传（OMIM）基因，包括NLRP7，DNTN3，父母没有这样的删除，并决定继续怀孕。妊娠37周时，由于羊水过少和胎动减少，剖宫产分娩了2560g女性婴儿。婴儿表现出腭裂，出生时的小颌畸形和后颌畸形。她在三个月大的时候做得很好。她的体重是5.3公斤（15-25百分位），体长为59.2厘米（第25-50百分位）。肾脏声像图显示双侧轻度盆腔扩张。在儿科随访期间，她没有表现出精神运动发育迟缓，也没有其他内脏器官异常。
结论：19q13.42-q13.43微缺失可能与小颌畸形有关，回颌,出生时腭裂和双侧肾盂扩张。
方法：一名32岁女性在妊娠28周时因胎儿小下颌畸形和产前超声检查双侧肾盂不张而进行了羊膜穿刺术。羊膜穿刺术显示核型为46，XX。对从未培养的羊膜细胞中提取的DNA进行的同时阵列比较基因组杂交（aCGH）分析显示了arr19q13.42q13.43（55,028,722-56,680,564）×1.0[GRCh37（hg19）]或1.651Mb微缺失的结果，包括44个在线孟德尔人遗传（OMIM）基因，包括NLRP7，DNTN3，父母没有这样的删除，并决定继续怀孕。妊娠37周时，由于羊水过少和胎动减少，剖宫产分娩了2560g女性婴儿。婴儿表现出腭裂，出生时的小颌畸形和后颌畸形。她在三个月大的时候做得很好。她的体重是5.3公斤（15-25百分位），体长为59.2厘米（第25-50百分位）。肾脏声像图显示双侧轻度盆腔扩张。在儿科随访期间，她没有表现出精神运动发育迟缓，也没有其他内脏器官异常。
结论：19q13.42-q13.43微缺失可能与小颌畸形有关，回颌,出生时腭裂和双侧肾盂扩张。
