RESUMEN
Trisomy 6p is an extremely rare disorder, in fact approximately 42 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(6;14), thus the offspring inherit such a gene. In this report, the mother's chromosomal arrangement was 46, XX, t(6;14)(p21.1;q32) and the father had a normal chromosomal arrangement. We experienced a case of trisomy 6p in a male neonate who had low birth weight, craniofacial abnormalities, sacral dimple and syndactyly. The karyotype of his chromosome was 46, XY, der(14)t(6;14) (p21.1;q32). We report the case with the review of the associated literatures.
Asunto(s)
Humanos , Recién Nacido , Masculino , Cromosomas Humanos Par 6 , Anomalías Craneofaciales , Padre , Genes vif , Recién Nacido de Bajo Peso , Cariotipo , Sindactilia , TrisomíaRESUMEN
Trisomy 12p is an extremely rare disorder, in fact approximately 30 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(12;18), thus the offspring inherit such a gene. In this report, the father's chromosomal arrangement was 46, XY, t(12;18)(p12.1;p11.31) and the mother had a normal chromosomal arrangement. We identified a neonate with a short- neck, round face, prominent forehead, long philtrum, low-set ears, imperforated anus and congenital megacolon. We then carried out a chromosomal study and diagnosed the trisomy 12p. If one or both parents are known carriers, it is strongly suggested to perform amniocentesis or chorionic villus sampling for every pregnancy and it is also recommended that potential parents receive genetic counseling before any pregnancy.
Asunto(s)
Femenino , Humanos , Recién Nacido , Embarazo , Amniocentesis , Canal Anal , Muestra de la Vellosidad Coriónica , Oído , Frente , Genes vif , Asesoramiento Genético , Enfermedad de Hirschsprung , Labio , Madres , Cuello , Padres , TrisomíaRESUMEN
No abstract available.