A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.
AUTOR(ES)
Valerio, D
RESUMO
A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's tetralogy), genitourinary and gastrointestinal anomalies, and agenesis of the corpus callosum. A comparison with other reported cases of partial trisomy 19q is presented. A hypothesis is proposed to account for the involvement of p13 regions of different acrocentrics in some cases of familial translocations involving a chromosome 19.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016504Documentos Relacionados
- "Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation.
- Partial trisomy 16q secondary to a maternal 9;16 translocation.
- Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.
- Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation.
- Partial trisomy 16p due to maternal balanced translocation.