RESUMEN
We present a fetus with typical manifestations of distal monosomy 13q (oligodactyly, heart defect, anal atresia, hypoplastic kidneys) and der( 13)t( 1 ; 13)(q42;q21)pat. He also had exencephaly which at this developmental stage is an embryological precursor of anencephaly. Detailed analysis of neural tube defects (NTD) in publications about distal monosomy 13q showed that most defects affect cranial aspect of the neural tube (anencephaly, exencephaly, encephaloceles) with a relative small proportion of spina bifida. There are strong evidences that the gene(s) responsible for the origin of NTD in distal monosomy 13q has to be located within 13q33q34 segments. However, our analysis showed that NTD are much more common for the patients (fetuses) having larger deletions (with breakpoints at 13q22 or more proximal). These data suggest that the 13q22 segment includes a regulatory element somehow controlling function of the "distal" NTD-related gene(s).
Asunto(s)
Anomalías Múltiples/patología , Trastornos de los Cromosomas/genética , Defectos del Tubo Neural/diagnóstico por imagen , Anomalías Múltiples/genética , Aborto Inducido , Adulto , Deleción Cromosómica , Cromosomas Humanos Par 13/genética , Femenino , Humanos , Defectos del Tubo Neural/genética , Embarazo , Ultrasonografía PrenatalRESUMEN
We report a fetus with del(6)(q21q23) who had tetralogy of Fallot and ectrodactyly of the right hand. Analysis of the literature showed that both these defects were reported in several patients with similar deletions. The minimal segment responsible for ectrodactyly may be limited to 7.35 Mb (106.650.000-114.600.000). However 1) significant number of patients with this deletion but without ectrodactyly or other defects of extremities, and 2) wide range of unusual birth defects in some persons with deletions of the critical segment allow to propose involvement of regulatory element(s) necessary for the occurrence of ectrodactyly in patients with del 6q21.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 6/genética , Retardo del Crecimiento Fetal/genética , Deformidades Congénitas de las Extremidades/genética , Tetralogía de Fallot/genética , Aborto Inducido , Adulto , Femenino , Retardo del Crecimiento Fetal/diagnóstico por imagen , Feto , Pruebas Genéticas , Edad Gestacional , Humanos , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Embarazo , Diagnóstico Prenatal , Tetralogía de Fallot/diagnóstico por imagen , UltrasonografíaRESUMEN
Premature infants are highly vulnerable to developing various pathologies including eye and ear diseases; some of them are believed to be associated with specific individual features of gestation and labour course. The study included audiologic screening of 148 babies (296 ears) born prematurely during 24-37 weeks of pregnancy (delayed evoked otoacoustic emission was recorded at the distortion product frequency). For the purpose of dynamic evaluation of hearing ability, all the infants were divided into 3 groups depending on gestational age at birth; they were followed up throughout the first year of life. This paper describes factors complicating pregnancy and labour in women, the most common pathological conditions in premature infants, time and results of their audiologic screening by means of recording delayed evoked otoacoustic emission, algorithm of preliminary examination of premature infants of different gestational age and their selection for audiologic screening, recommendations on the organization of mass audiologic examination of prematurely born infants taking into consideration their gestational and post-conception age.
Asunto(s)
Trastornos de la Audición/diagnóstico , Pruebas Auditivas/métodos , Emisiones Otoacústicas Espontáneas/fisiología , Complicaciones del Embarazo , Adolescente , Adulto , Femenino , Edad Gestacional , Trastornos de la Audición/fisiopatología , Humanos , Recién Nacido , Recien Nacido Prematuro , Embarazo , Adulto JovenRESUMEN
Audiological screening by registration of delayed evoked distortion product otoacoustic emission (DPOE) was made in 148 premature neonates (296 ears) born at gestation week 24-37. All the examinees were divided into three groups depending on the gestation term and were followed up for the first year of life. The results of the screening tests with reference to postconceptional and real age of premature infants are given. Recommendations are available on wide audiological examinations of premature infants depending on their gestational and postconceptional age.