Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21
AUTOR(ES)
Chapelle, Albert De La
RESUMO
The segregation of a balanced reciprocal (4;21)(q21;q21) translocation is described. The family was ascertained through a clinically abnormal proposita with an unbalanced karyotype 47,XX,+der(21),t(4;21)(q21;q21)mat. The proposita was trisomic for regions 4q2, 4q3, 21p, and 21q1. Symptoms that might be attributed to the partial trisomy for parts of 4q were narrow bird face with slanting forehead, prominent nasal bridge and small mandible, downward pointing corners of the mouth, deformed ears, palpebral ptosis, and bushy eyebrows. Similar symptoms occur in other trisomy and deletion syndromes.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013062Documentos Relacionados
- Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.
- Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome.
- A new interstitial deletion of 4q (q21.1::q22.1).
- Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.
- Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).