أعرض في EDS

Prenatal diagnosis of partial tetrasomy 14: a case study

التفاصيل البيبلوغرافية
العنوان:	Prenatal diagnosis of partial tetrasomy 14: a case study
المؤلفون:	Lavinia Hallam, Julie McGaughran, Alice M. George, Paul Oei
المصدر:	Prenatal diagnosis. 22(2)
سنة النشر:	2002
مصطلحات موضوعية:	Adult, Male, Pathology, medicine.medical_specialty, Marker chromosome, Limb Deformities, Congenital, Aneuploidy, Prenatal diagnosis, Gestational Age, Biology, Polymerase Chain Reaction, Ultrasonography, Prenatal, Craniofacial Abnormalities, Pregnancy, Prenatal Diagnosis, medicine, Humans, Supernumerary, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 14, Obstetrics and Gynecology, Chromosome, Brain, Karyotype, medicine.disease, Molecular biology, Uniparental disomy, Tetrasomy, Amniocentesis, Female
الوصف:	Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY, +mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright (C) 2002 John Wiley Sons, Ltd.
تدمد:	0197-3851
URL الوصول:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::638dc694c9100696ba4f09f8cf345070 https://pubmed.ncbi.nlm.nih.gov/11857618
حقوق:	CLOSED
رقم الأكسشن:	edsair.doi.dedup.....638dc694c9100696ba4f09f8cf345070
قاعدة البيانات:	OpenAIRE

الوصف
تدمد:	01973851