Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?
Clin Genet
; 51(5): 357-60, 1997 May.
Article
en En
| MEDLINE
| ID: mdl-9212188
We report a child with a duplication-deficiency subsequent to t(15;20)(q25.2;p12.2), transmitted in at least 5 generations, who showed features of 15q- syndrome. We speculate that brachydactyly--most likely because of brachymesophalangism--is a feature of the phenotype of this chromosomal aberration and points to candidate gene(s) in this region. A similar brachydactyly was, however, reported with dup(20p1-pter).
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Cromosomas Humanos Par 15
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Cromosomas Humanos Par 20
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Deformidades Congénitas de la Mano
/
Dedos
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
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Male
Idioma:
En
Revista:
Clin Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Dinamarca