Translocation, t(4q−;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation
AUTOR(ES)
Schrott, Helmut G.
RESUMO
The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q−;13q+), in several asymptomatic members of the family including the propositus' mother. This indicates that the propositus had partial trisomy for the distal one-third of the long arm of chromosome 4. Review of the literature suggests that urinary tract and genital anomalies may be a consistent feature of this partial trisomy.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013119Documentos Relacionados
- Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5).
- Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation.
- Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.
- Partial trisomy for long arm of chromosome 16.
- Partial Trisomy of the Long Arm of Chromosome No. 7
