FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype.
Am J Med Genet
; 52(1): 92-6, 1994 Aug 01.
Article
em En
| MEDLINE
| ID: mdl-7977471
ABSTRACT
An infant girl with manifestations resembling Optiz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is compared to that of other syndromes involving trigonocephaly.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Crânio
/
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 13
/
Deformidades Congênitas da Mão
/
Aneuploidia
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article