Phenotypic and genetic analysis of a child featuring multiple malformations due to copy number variation on chromosome 5 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 56-59, 2014.
Artículo
en Chino
| WPRIM
| ID: wpr-254509
ABSTRACT
<p><b>OBJECTIVE</b>To determine the origin of chromosomal aberration for a child featuring multiple malformation, and to correlate the genotype with phenotype.</p><p><b>METHODS</b>Routine G-banding was performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) was used for fine mapping of the aberrant region.</p><p><b>RESULTS</b>The karyotype of the child was ascertained as 46,XY. Array CGH has mapped a 14.21 Mb deletion to 5p15.2p15.33, and a very small 3.67 Mb duplication to 5q35.3. The patient has presented features such as mental retardation, heart defect, low-set ears, hypertelorism and down-slanting palpebral fissures.</p><p><b>CONCLUSION</b>Chromosome 5 copy number variation can cause multiple malformation. In contrast to routine karyotype analysis, array CGH can map aberrant region with much higher resolution and accuracy.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Anomalías Múltiples
/
Cromosomas Humanos Par 5
/
Aberraciones Cromosómicas
/
Diagnóstico
/
Variaciones en el Número de Copia de ADN
/
Genética
/
Genotipo
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2014
Tipo del documento:
Artículo
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