RESUMEN
Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities. In this report, we describe two new 17q23.2 deletion patients with mild intellectual disability and sensorineural hearing loss. They both had submicroscopic deletions smaller than the common deleted region for the 8 previously described 17q23.2 microdeletion cases. TBX4 was previously suggested as the responsible gene for the heart or limb defects observed in 17q23.2 deletion patients, but the present cases do not have these features despite deletion of this gene. The finding of sensorineural hearing loss in 5 of the 10 cases, including the present cases, with a microdeletion at17q23.2, strongly suggests the presence of a candidate gene for hearing loss within this region. We screened 41 patients with profound sensorineural hearing loss for mutations of TBX2 and detected no mutations.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 17 , Pérdida Auditiva Sensorineural/genética , Niño , Preescolar , Hibridación Genómica Comparativa , Femenino , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Lactante , Polimorfismo de Nucleótido Simple , Proteínas de Dominio T Box/genéticaRESUMEN
This study examines reliability and validity and establish Danish norms for the Danish version of the Beck Youth Inventories (BYI) (Beck, Beck & Jolly, 2001), which consists of five self-report scales; Self-Concept (BSCI), Anxiety (BAI), Depression (BDI), Anger (BANI) and Disruptive Behavior (BDBI). A total of 1,116 school children and 128 clinical children, aged 7-14, completed BYI. Internal consistency coefficients were high. Most test-retest correlations were >0.70. A test-retest difference was found for BAI. Exploratory and confirmatory factor analysis indicated that the five factor structure of the instrument was justified. The BSCI, BAI and BDI discriminated moderately between the norming sample and the clinical group, and the latter group included more children who exceeded the 90th percentile of the norming sample. Diagnostic groups scored higher on relevant scales than norms. Only BSCI and BDI differentiated between diagnostic groups. The BYI showed acceptable internal consistency and test-retest stability, except for BAI. The BYI did not adequately differentiate between internalizing disorders.
