title: [Idiopathic mental retardation--importance of clinical diagnostic scores for case selection].
abstract: We present a retrospective study aimed to identify the correlation between de Vries clinical score and the detection of chromosomal abnormalities in mentally retarded (MR) children. We have used the score to identify patients who should be tested by karyotyping and subsequently MLPA (multiplex ligation dependent probe amplification) for subtelomeric rearrangements. Our group is formed of 36 children with variable MR associated with other anomalies. 18 children had chromosomal defects, whereas 18 had normal karyotypes. In the first group, total scores varied between 3 and 7. Chromosomal anomalies 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 anomaly (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 chromosomal abnormalities in MR children.
authors.affiliation: Facultatea de Medicină, Disciplina de Genetică Medicală, Universitatea de Medicină si Farmacie Gr.T. Popa Iaşi.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Caba
authors.forename: Cristina
authors.initials: C
authors.lastname: Rusu
authors.forename: M
authors.initials: M
authors.lastname: Voloşciuc
authors.forename: Lăcrămioara
authors.initials: L
authors.lastname: Butnariu
authors.forename: Elena
authors.initials: E
authors.lastname: Braha
authors.forename: Mihaela
authors.initials: M
authors.lastname: Grămescu
authors.forename: C
authors.initials: C
authors.lastname: Bujoran
authors.forename: E V
authors.initials: EV
authors.lastname: Gorduza
authors.forename: M
authors.initials: M
authors.lastname: Covic
mesh_terms: D000465:Algorithms; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D004423:Ear / Q000002:abnormalities; D005260:Female; D005784:Gene Amplification; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping / Q000379:methods; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics; D009666:Nose / Q000002:abnormalities; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D018579:Patient Selection; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index