Assuntos
Transtornos Cromossômicos/genética , Hérnias Diafragmáticas Congênitas/genética , Doenças do Recém-Nascido/genética , Microftalmia/genética , Trissomia/genética , Transtornos Cromossômicos/complicações , Cromossomos Humanos Par 13/genética , Hérnias Diafragmáticas Congênitas/etiologia , Humanos , Recém-Nascido , Masculino , Microftalmia/etiologia , Síndrome da Trissomia do Cromossomo 13RESUMO
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.
Assuntos
Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/genética , Transtornos do Desenvolvimento da Linguagem/genética , Polidactilia/genética , Trissomia , Anormalidades Múltiplas/patologia , Adulto , Pré-Escolar , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 9/genética , Deficiências do Desenvolvimento/patologia , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Transtornos do Desenvolvimento da Linguagem/patologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Polidactilia/patologia , Trissomia/genética , Trissomia/patologia , Trissomia/fisiopatologiaRESUMO
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.