Distal monosomy 14 not associated with ring formation.
AUTOR(ES)
Hreidarsson, S J
RESUMO
A 12-year-old boy with congenital heart disease, short stature, mildly dysmorphic facies, and mild intellectual impairment was found to have a de novo terminal deletion (14)(q32.3). Although his phenotype resembles that of six reported patients with a similar breakpoint, his CNS involvement is milder. He appears to be the first reported case of a terminal deletion of chromosome 14 not associated with ring 14 formation. Advanced parental ages and maternal origin of the chromosome with the deletion are noted.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049023Documentos Relacionados
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