[Idiopathic XXXX --importance of clinical diagnostic scores for case selection].

@entity1 @entity2008 @entity1032 @entity154
We present a retrospective study aimed to identify the correlation between de Vries clinical score and the detection of @entity2008 in @entity1032 ( @entity1032 ) @entity1 . We have used the score to identify @entity1 who should be tested by karyotyping and subsequently MLPA (multiplex ligation dependent probe amplification) for subtelomeric rearrangements. Our group is formed of 36 @entity1 with variable @entity1032 associated with other anomalies. 18 @entity1 had chromosomal defects, whereas 18 had normal karyotypes. In the first group, total scores varied between 3 and 7. @entity2008 identified were: numerical (4) and structural (14). Chromosomes involved were: 1, 4, 5, 7, 8, 9, 17, X. Deletions were the most common and correlate with a greater score (> or = 4). Common clinical features were: short stature, microcephaly, nasal, ear and hand anomalies. In the second group the most frequent clinical feature was hand @entity154 (61.2%) and cases with a high score have to be further tested (e.g. using MLPA) in order to identify minor defects. In our opinion a high score indicates the karyotype and then a MLPA testing. In conclusion, we present a retrospective study that proves the use of de Vries diagnostic score in the identification of @entity2008 in @entity1032 @entity1 .
