Prenatal detection of monosomy 21 mosaicism

Autor:	Alessandro Ghidini, Jane Robinowitz, Charles J. Lockwood, Shari Fallet, Renate Dische, Judith P. Willner
Rok vydání:	1993
Předmět:	Adult Heart Defects Congenital medicine.medical_specialty Monosomy Chromosomes Human Pair 21 Aneuploidy Prenatal diagnosis Facial Bones Ultrasonography Prenatal Fingers Pregnancy Prenatal Diagnosis medicine Humans Abnormalities Multiple Abortion Therapeutic Genetics (clinical) Genetics Fetus Fetal Growth Retardation medicine.diagnostic_test Mosaicism business.industry Obstetrics Obstetrics and Gynecology medicine.disease Fetal Diseases Echocardiography In utero Pregnancy Trimester Second Amniocentesis Gestation Female business
Zdroj:	Prenatal Diagnosis. 13:163-169
ISSN:	1097-0223 0197-3851
Popis:	We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12cee6d3b5176312e1e257bc7c2e39e https://doi.org/10.1002/pd.1970130303 Zobrazit plný text záznamu Plný text