Partial trisomy 7p associated with familial 7p;22q translocation.
AUTOR(ES)
Larson, L M
RESUMO
A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features include general mental and motor retardation, microbrachycephaly, and cardiac and oral abnormalities.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013579Documentos Relacionados
- Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.
- "Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation.
- Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.
- Partial trisomy 16 as a result of familial 16;20 translocation.
- Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation.