RESUMO
The paper reports sonographic prenatal diagnosis of monogenic and chromosomal syndromes (congenital malformations) which are associated with skeletal abnormalities: autosomal recessive syndromes (shortribs--polydactyly, type II; dyssegmental dwarfism, type II; Pen-Shokeir disease type I), autosomal dominant syndromes (Larsen's syndrome, achondroplasia, Schmidt's metaphyseal dysplasia of segregating partial chromosome of 7 long-arm trisomy). All cases were detected in the second trimester; diagnosis of chromosomal diseases employed the amniocentesis. In aborted pregnancies, diagnoses were confirmed at autopsy. Pathognomonic sonographic markers were described for every syndrome; numerous conditions were differentiated from similar syndromes. Genetic counseling identified recurrence risks and offspring prognosis. Potentials of sonographic diagnosis of systemic skeletal dysplasia and a need for a syndrome-oriented approach to prenatal diagnosis are discussed.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Aberrações Cromossômicas/genética , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Adulto , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/genética , Transtornos Cromossômicos , Feminino , Aconselhamento Genético , Humanos , Masculino , Linhagem , GravidezRESUMO
Clinical genetic analysis of distal trisomies 1q, based on the study of a t(1; 6) (q42.1; p24) family and the literature data, was performed. It was demonstrated that phenotypical manifestations of the trisomy are formed by nonspecific anomalies, due to imbalance as such, and by rather specific anomalies caused by triplication of a "critical segment". 1q42-1qter appeared to be such a segment for distal trisomy 1q.