Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.
Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.
复制标题
从头环染色体4中4p和4Q亚电体微骨骼的产前诊断。
DOI：
10.1155/2013/248050
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发表时间：
2013
影响因子：
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通讯作者：
Fidanboy M
中科院分区：
文献类型：
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作者：
Akbas H;Cine N;Erdemoglu M;Atay AE;Simsek S;Turkyilmaz A;Fidanboy M
环形染色体是产前诊断中观察到的异常。一名23岁的患者（孕妇1，帕拉0）由于第二次妊娠第16周时母体血清筛查结果异常而转诊进行子宫颈穿刺术。对培养的羊水细胞进行细胞遗传学分析，发现了4号环状染色体。母亲和父亲的核型均正常。荧光原位杂交（FISH）结果显示，4号环状染色体4p臂和4q臂均有末端缺失。然而，通过额外的FISH研究，在正常和环状4号染色体的WHS关键区域中未观察到缺失。这些结果通过显示4p16.3（130 kb）和4q35.2（2.449 Mb）末端缺失的阵列CGH得到证实。孕21周，胎儿超声检查除2周对称性生长迟缓外，未见明显异常。 根据我们的文献回顾，这是第一个产前的情况下，4p和4q亚端粒缺失的4号环状染色体，而不涉及WHS的关键区域。本文报道了一例经微阵列CGH完全定性的4号环状染色体异常的产前病例，为产前诊断的遗传咨询提供了补充资料。
Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.