Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5).
AUTOR(ES)
Gilgenkrantz, S
RESUMO
Five members of our study family were carriers of a balanced insertion (10;5) (q22;q13;q22). One of the children had psychomotor retardation and malformations resulting from a partial trisomy of the proximal long arm of chromosome 5, having received the maternal der(10). Amniocentesis identified another case of partial proximal trisomy in a fetus of a subsequent pregnancy. This clinical and family study is compared with two other published cases of proximal trisomy 5q.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048797Documentos Relacionados
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