Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 rearrangement / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 402-405, 2017.
Article
Dans Chinois
| WPRIM
| ID: wpr-335116
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype.</p><p><b>METHODS</b>The SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array).</p><p><b>RESULTS</b>G-banding analysis indicated that the patient has a karyotype of 47,XX,+mar. MLPA showed that there were duplications of proximal 15q. FISH assay using D15Z4 probes indicated that the SMC was a pseudodicentric chromosome derived from chromosome 15. And SNP-array revealed that there were two extra copies of 15q11-13 region spanning from locus 20 161 372 to 29 071 810.</p><p><b>CONCLUSION</b>The duplication of Prader-Willi/Angelman syndrome critical region probably underlies the abnormal phenotype of the inv dup(15) case with a BP3BP3 rearrangement.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chromosomes humains de la paire 15
/
Réarrangement des gènes
/
Zébrage chromosomique
/
Hybridation fluorescente in situ
/
Maladies chromosomiques
/
Génétique
/
Caryotypage
Limites du sujet:
Adulte
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article
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