Recurrent Partial Trisomy 1q in Maternal Balanced Translocation t(1;11)(q32;q23) / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 338-342, 2000.
Article
Dans Coréen
| WPRIM
| ID: wpr-187986
ABSTRACT
Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 1q usually demonstrates fetal growth restriction and anomalies of head, face, urogenital tract, heart, finger and toes with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 1q in Korea. We present the case of recurrent partial trisomy 1q in maternal balanced translocation which was prenatally diagnosed by amniocentesis with fluorescence in situ hybridization(FISH) based on abnormal ultrasonographic findings and poor obstetric history.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Trisomie
/
Orteils
/
Développement foetal
/
Doigts
/
Fluorescence
/
Tête
/
Coeur
/
Amniocentèse
/
Corée
Type d'étude:
Etude diagnostique
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Korean Journal of Obstetrics and Gynecology
Année:
2000
Type:
Article
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