"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation.
AUTOR(ES)
Mikelsaar, R V
RESUMO
A girl with a new de novo translocation of 4q onto the short arm of acrocentric 22 is reported as a case of "pure" partial trisomy 4q. Her karyotype was 46, XX,-22, +mar, t(4;22)(q25-->qter;p11) identified by Giemsa staining and FISH. Comparison of the proband with previously reported cases of "pure" partial trisomy 4q showed the main clinical features to be growth retardation, psychomotor retardation, microcephaly, large, low set, malformed ears, prominent nasal bridge, ptosis and epicanthus.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050589Documentos Relacionados
- A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.
- Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.
- 'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).
- Partial trisomy 1q25----qter.
- Partial trisomy 7p associated with familial 7p;22q translocation.