Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents.
AUTOR(ES)
Neu, R L
RESUMO
A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051543Documentos Relacionados
- A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter.
- Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
- Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
- Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter.
- At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.