Asunto(s)
Trastornos de los Cromosomas/genética , Hernias Diafragmáticas Congénitas/genética , Enfermedades del Recién Nacido/genética , Microftalmía/genética , Trisomía/genética , Trastornos de los Cromosomas/complicaciones , Cromosomas Humanos Par 13/genética , Hernias Diafragmáticas Congénitas/etiología , Humanos , Recién Nacido , Masculino , Microftalmía/etiología , Síndrome de la Trisomía 13RESUMEN
Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat: Partial trisomy 4q is a rare chromosomal abnormality and mostly results from unbalanced inheritance of balanced parental chromosomal translocations. Here, we present a 5-year-old boy with partial trisomy 4q who exhibited distinctive features of 'pure' partial trisomy 4q syndrome including moderate mental and growth retardation, microcephaly, peculiar face appearance, tooth anomaly, cleft palate, language handicap, preaxial polydactyly, and urogenital anomaly. Karyotype analysis of the child revealed der(9)ins(9;4)(q34.3;q26q35.2) inherited from mother carrying ins(9;4)(q34.3;q26q35.2) resulting in trisomy of the 4q26qter segment. Whole chromosome painting, locus specific, and subtelomeric FISH analysis in mother proved that q26qter of the chromosome 4 segment was directly inserted into the telomeric sequence in chromosome 9, and depending on nature of the rearrangement in mother, karyotype of the child was determined to be pure partial 4q trisomy. This is the first report of this kind of rearrangement causing pure partial trisomy 4q with accompanying white matter change demonstrated by MRI and bilateral preaxial polydactyly of both hands.
Asunto(s)
Anomalías Múltiples/genética , Discapacidades del Desarrollo/genética , Trastornos del Desarrollo del Lenguaje/genética , Polidactilia/genética , Trisomía , Anomalías Múltiples/patología , Adulto , Preescolar , Cromosomas Humanos Par 4/genética , Cromosomas Humanos Par 9/genética , Discapacidades del Desarrollo/patología , Discapacidades del Desarrollo/fisiopatología , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipo , Trastornos del Desarrollo del Lenguaje/patología , Trastornos del Desarrollo del Lenguaje/fisiopatología , Imagen por Resonancia Magnética , Masculino , Polidactilia/patología , Trisomía/genética , Trisomía/patología , Trisomía/fisiopatologíaRESUMEN
Partial trisomy 4q is a rare chromosomal abnormality which results in variable clinical features, often including growth and developmental delay, mental retardation and dysmorphic features. We herein report a newborn with the diagnosis of partial trisomy 4q with Hirschsprung's disease who was monitored in neonatal intensive care unit. This is the first report of partial trisomy 4q27q35 with accompanying Hirschsprung's disease.
