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.
Article
de Zh
| WPRIM
| ID: wpr-254509
Bibliothèque responsable:
WPRO
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>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Phénotype
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Malformations multiples
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Chromosomes humains de la paire 5
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Aberrations des chromosomes
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Diagnostic
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Variations de nombre de copies de segment d'ADN
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Génétique
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Génotype
Type d'étude:
Diagnostic_studies
Limites du sujet:
Humans
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Infant
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Male
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2014
Type:
Article