Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization
Journal of Korean Medical Science
;
: 1097-1101, 2008.
Artigo
em Inglês
| WPRIM
| ID: wpr-36256
ABSTRACT
Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation. We utilized whole genomic array comparative genome hybridization (CGH) with 4,000 selected bacterial artificial chromosomes (BACs) to define the chromosomal breakpoints and to delineate the extent of the partial trisomy in more detail. To our knowledge, this is the first case of nearly pure "partial trisomy 1q41" defined by whole genomic array CGH.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Translocação Genética
/
Trissomia
/
Cromossomos Humanos Par 1
/
Cromossomos Humanos Par 11
/
Hibridização in Situ Fluorescente
/
Análise de Sequência com Séries de Oligonucleotídeos
/
Hibridização Genômica Comparativa
/
Cariotipagem
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2008
Tipo de documento:
Artigo
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