Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).
AUTOR(ES)
Schinzel, A
RESUMO
A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048662Documentos Relacionados
- Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation.
- Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.
- Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
- Three children with partial trisomy 1q and partial monosomy 3p.
- Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.