Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features
Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features
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DOI：
10.1007/s00431-006-0214-0
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发表时间：
2007-01-01
影响因子：
3.6
通讯作者：
Sasiadek, Maria
中科院分区：
文献类型：
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作者：
Stembalska, Agnieszka;Laczmanska, Izabela;Sasiadek, Maria
4号染色体倒位与断点p13-p15 q35导致重组4 [rec（4）]染色体，在大约80%的携带者后代中具有部分4p重复/4 q缺失。然而，重组4p综合征是否可以被认为是一个临床实体仍然存在争议。我们报告了两个姐妹篇被诊断为rec（4），导致部分4p三体/4 q缺失，这是遗传自她们的母亲，谁是inv（4）（p14 q35）的携带者。这两个先证者的表型与在其他rec（4）双亲儿童中观察到的表型一致，支持了rec（4）双亲综合征是dup（4p）病例中的一个独特实体的观点，并且可以根据临床症状模式进行怀疑。据我们所知，这只是第二个家庭与两个先证者受影响的重组染色体4所产生的父母臂间倒位的报告。
The chromosome 4 inversion with breakpoints p13-p15q35 results in a recombinant 4 [rec(4)] chromosome with a partial 4p duplication/4q deletion in approximately 80% of the carriers' offspring. However, whether the recombinant 4p syndrome can be recognized as a clinical entity is still open to controversy. We report on two sisters diagnosed with rec(4) resulting in a partial 4p trisomy/4q deletion that was inherited from their mother, who is a carrier of inv(4)(p14q35). Both probands presented phenotypes consistent with those observed in other children with rec(4)parental, supporting the porposal that the rec(4)parental syndrome is a distinct entity among dup(4p) cases and may be suspected on the basis of the pattern of clinical symptoms. To the best of our knowledge this is only the second report of family with two probands affected with a recombinant chromosome 4 arising from a parental pericentric inversion.