Genetic analysis of a child with cleidocranial dysplasia and 6q21-q22.31 microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 253-256, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-687966
ABSTRACT
<p><b>OBJECTIVE</b>To carry out genetic analysis on a child with developmental delay and multiple malformation.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with routine chromosomal G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>The karyotype of the proband was determined as 46,XX,del(6)(q22),inv(6)(p21.1q21), while no karyotypic abnormality was detected in her parents. aCGH has identified in the child a de novo 800 kb deletion encompassing the RUNX2 gene at 6p21.1 and a de novo 11.79 Mb deletion at 6q21-q22.31.</p><p><b>CONCLUSION</b>Both of the de novo deletions are pathogenic. Deletion of the RUNX2 gene probably underlies the cleidocranial dysplasia in the patient, while the 6q21-q22.31 deletion may result in malformation of the brain.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes humains de la paire 6
/
Dépistage génétique
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Zébrage chromosomique
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Délétion de segment de chromosome
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Dysostose cleido-crânienne héréditaire
/
Sous-unité alpha 1 du facteur CBF
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Hybridation génomique comparative
/
Génétique
/
Caryotypage
Type d'étude:
Étude pronostique
Limites du sujet:
Enfant d'âge préscolaire
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2018
Type:
Article
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