RESUMEN
We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 4 , Oftalmopatías/genética , Anomalías Dentarias/genética , Adolescente , Anfirregulina , Betacelulina , Proteína Morfogenética Ósea 2/genética , Proteínas del Esmalte Dental/genética , Enanismo/genética , Familia de Proteínas EGF , Proteínas de la Matriz Extracelular , Oftalmopatías/congénito , Femenino , Glicoproteínas/genética , Haploinsuficiencia , Humanos , Discapacidad Intelectual/genética , Péptidos y Proteínas de Señalización Intercelular/genética , Proteínas/genética , Pubertad Tardía/genética , SíndromeRESUMEN
Both polydisperse and monodisperse PMMA/xylene phase diagrams have been determined successfully by applying the optical density method. The changes in optical density for the polydisperse PMMA system are not as dramatic as the changes for the monodisperse PMMA system. Through the thermal-inversion process, the asymmetric membranes can be successfully made for this PMMA/xylene system. In the later stages of phase separation by spinodal decomposition, the flow properties of the PMMA/xylene system play a vital role in determining the final membrane microstructure. During the very early stage of phase separation by spinodal decomposition, a membrane with lacy structure results. In contrast, during the later stage of phase separation, a membrane structure with small pores dispersed in the polymer matrix results.