Asunto(s)
Aberraciones Cromosómicas , Hibridación Fluorescente in Situ/métodos , Leucemia/genética , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Factores de Transcripción/genética , Factores de Elongación Transcripcional/genética , Enfermedad Aguda , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 19 , HumanosRESUMEN
Interchromosomal insertional translocations are rare chromosome rearrangements with an incidence of about 1:80,000 live births. We report on the clinical and cytogenetic findings of a newborn baby with partial trisomy 10q22-10q24 due to a maternal insertional translocation 15;10. Partial trisomy of the long arm of chromosome 10 is a distinctive chromosome aberration characterized by prenatal-onset growth retardation and craniofacial, skeletal, and other somatic anomalies. Most cases are unbalanced products from reciprocal chromosome translocations, and insertional translocations are rarely involved. The proband was initially referred because of severe intrauterine growth retardation, and fluorescence in situ hybridization (FISH) using painting probes confirmed the maternal balanced (15;10) insertion.