Cytogenetic and molecular genetic analysis of small supernumerary marker chromosomes in fetal amniotic fluid / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 187-191, 2017.
Article
Dans Chinois
| WPRIM
| ID: wpr-335159
ABSTRACT
<p><b>OBJECTIVE</b>To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in order to facilitate genetic counseling.</p><p><b>METHODS</b>Chromosome karyotypes of two fetuses and their immediate family members were analyzed by conventional G banding. High-throughput whole genome sequencing was used to determine the origin of sSMCs.</p><p><b>RESULTS</b>Fetus 1 was shown to have a karyotype of 47,XY,+mar but with normal FISH and B ultrasound findings. Its father also had a 47,XY,+mar karyotype with normal FISH results and clinical phenotype. High-throughput genome sequencing revealed that fetus 1 and its father were both 46,XY,dup(21)(q11.2;q21.1) with a 6.2 Mb duplication of the long arm of chromosome 21. The fetus was born with normal phenotype and developed well. Its grandmother also had a karyotype of 46,XX,t(15;21)(q13;p13) with normal FISH result and clinical phenotype. The karyotypes of its mother and grandfather were both normal. Analysis of fetus 2 showed a 47,XY,+mar karyotype with normal FISH results. High-throughput genome sequencing suggested a molecular karyotype of 46,XX. The fetus was born with normal phenotype and developed well. The karyotypes of its parents were both normal.</p><p><b>CONCLUSION</b>Considering their variable origins, identification of sSMC should combine conventional G banding analyses with high-throughput whole genome sequencing for precise delineation of the chromosomes.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Marqueurs génétiques
/
Chimie
/
Embryologie
/
Zébrage chromosomique
/
Hybridation fluorescente in situ
/
Maladies chromosomiques
/
Cytogénétique
/
Diagnostic
/
Maladies foetales
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
/
Nouveau-né
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2017
Type:
Article
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