A case with neonatal XXXX : It is a characteristic complication of sotos syndrome.

@entity14537 @entity1 @entity11773 @entity14225 @entity4053 @entity1717 @entity14538 @entity19277 @entity29521 @entity21117
UNASSIGNED: @entity14537 ( @entity14537 , @entity19277 #117550) is an @entity21117 . Deletions or intragenic mutations of the @entity14538 , which is located at chromosome 5q35, are responsible for more than 75% of @entity14537 . Conventionally, @entity4053 was reported briefly as one of the infrequent symptoms of @entity14537 . However, Matsuo et al. published a report describing five @entity1 with @entity14537 who presented with transient @entity1717 ( @entity1717 ) in the neonatal period. We report on an additional @entity1 of @entity14537 , who presented transient @entity1717 in the neonatal period. All of this @entity1 and previous @entity1 have microdeletions at the 5q35 chromosome. Therefore, we examined the following three in considering the possibility that other factor than @entity14538 caused @entity1717 . 1) This @entity1 had no mutation of four currently known @entity1717 related genes, @entity11773 , @entity14225 , @entity29521 , and GCK. 2) He had no further deletion than commonly observed region encompassing @entity14538 by comparative genomic hybridization to DNA microarrays. 3) He had no mutation in the 5q35 region in the non-deleted chromosome using exsome sequence analysis. In conclusion, our @entity1 supported that @entity1717 could be one of the characteristic symptoms of @entity14537 in the neonatal period, and could be useful for early diagnosis.    2015 Wiley Periodicals, Inc.
