RESUMO
A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.
Assuntos
Anormalidades Múltiplas/diagnóstico , Adulto , Aberrações Cromossômicas/diagnóstico , Transtornos Cromossômicos , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 4 , Pai , Feminino , Deformidades Congênitas do Pé/genética , Cardiopatias Congênitas/genética , Humanos , Hibridização in Situ Fluorescente , Índia , Recém-Nascido , Monossomia/diagnóstico , Linhagem , Translocação Genética , Trissomia/diagnósticoRESUMO
(RSAs) revealed the presence of a supernumerary, metacentric, bisatellited microchromosome marker in the male partner. His karyotype was 47,XY,+mar. Molecular analysis revealed the marker to be an idic 14 or 22 (q11-12). We herein discuss two aspects with respect to the presence of the marker: firstly, the karyotype-phenotype relationship in the carrier as well as the possibility of the marker causing abnormality in the next generation and, secondly, the possible role of the marker in the causation of RSAs.