RESUMO
Pericentric inversion of chromosome 19 appears to be a rare abnormality with only a few families reported. As far as we are aware, none of them were ascertained because of a recombinant individual. We describe the first identified case due to an affected patient, with duplication deficiency for chromosome 19 arising from a maternal inversion confirmed by FISH and CGH. His features included prenatal growth retardation, microcephaly, dysmorphic facies, congenital heart defect, hypoplasia of corpus callosum and psychomotor delay. The identification of recombinant individuals contribute to calculate a precise risk for inv (19) carriers and to provide a more accurate genetic counselling.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Inversão Cromossômica , Cromossomos Humanos Par 19/genética , Agenesia do Corpo Caloso , Anormalidades Craniofaciais/genética , Feminino , Retardo do Crescimento Fetal/genética , Cardiopatias Congênitas/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Microcefalia/genética , Mães , Gravidez , Transtornos Psicomotores/genéticaRESUMO
OBJECTIVE: To show the importance of using high-resolution chromosome analysis and FISH-technique for finding subtle chromosomal lesions in prenatal diagnosis specially when there are abnormal ultrasound findings. METHODS: Ecographic examination of the fetus. GTG banded chromosome and FISH analysis using subtelomeric probes on amniocytes. RESULTS: We report two prenatal cases with congenital diaphragmatic hernia (CDH) and congenital heart defects (CHDs) with different deletions confirmed by FISH: del(8)(p23.1p23.1) and del(15)(q26.1). CONCLUSION: These cases support the evidence that the regions 15q26.1 and 8p23.1 may play an important role in the development of the diaphragm. A deletion 8p23.1 or 15q26.1 should be considered whenever a CDH and/or a cardiac abnormality are detected on ultrasound.
