RESUMO
The 16p13.3p13.1 region has been reported as a "critical" hotspot region for recurrent microdeletions/duplications, which may contribute to epilepsy, learning difficulties and facial dysmorphisms. Cytogenetic and array-CGH analyses were performed because of the clinical characteristics of the patient. The girl showed de novo 16p13.3p13.13 duplication spanning a region of â¼5.3 Mb. She presented brain anomalies, intellectual disability, epilepsy, facial and vertebral dysmorphisms. To our knowledge, this is the first reported case of 16p13.3p13.13 duplication; only three patients with an overlapping deletion in 16p13.2p13.13 were previously described. The duplicated region contains 21 OMIM genes and, six of them (RBFOX1, TMEM114, ABAT, PMM2, GRIN2A and, LITAF) were found to be associated with known diseases. Although no duplication of these genes has been described in the literature, we discuss here if they had some role in determining phenotype of our patient.
Assuntos
Duplicação Cromossômica , Trissomia/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Proteína de Ligação a CREB/genética , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 16/genética , Coloboma/genética , Hibridização Genômica Comparativa , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Epilepsia/genética , Feminino , Humanos , Deficiência Intelectual/genética , Proteínas de Membrana/genética , Mosaicismo , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Proteínas Nucleares/genética , Fosfotransferases (Fosfomutases)/genética , Fatores de Processamento de RNA , Proteínas de Ligação a RNA/genética , Receptores de N-Metil-D-Aspartato/genética , Fatores de Transcrição/genéticaRESUMO
Low birth weight and length for gestational age are associated with a high risk of short stature and metabolic syndrome in adulthood. The mechanisms that link prenatal growth to adult stature and metabolic syndrome have not yet been entirely clarified. The aim of our study was to evaluate the relationship between standardized anthropometric measures at birth and insulin-like growth factor (IGF)-I, IGF-II, insulin, adiponectin, and non-esterified fatty acid (NEFA) cord blood levels in the general population. One hundred fifty-eight random newborn subjects (77F, 81M) from Genoa, Italy, were analyzed. Anthropometric parameters were measured and standardized according to standard Italian tables. Insulin values were treated as categorical, since in several cases the results fell below detection cut-off. Mean birth weight was 3,214.23∓488.99 gr and mean length was 49.82∓2.17 cm. Females had higher mean IGF-I (p=0.04), and were more likely to have insulin values either <2 μU/ml or >4.5μU/ml (p= 0.04) compared to males. Weight and length SD scores (SDS) were higher in subjects with elevated insulin levels (p=0.002). A moderate correlation was found between weight and IGF-II (r=0.354). Multivariable analysis demonstrated that standardized birth weight was associated with IGFII and insulin values. Our data highlight the importance of IGF-II in fetal growth and suggest that gender differences should be taken into consideration when evaluating prenatal growth.
