Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency

Autor:	Zhanna G. Markova, Nadezhda V. Shilova, Yuliya Olegovna Kozlova, Marina Yevgenyevna Minzhenkova, Tatyana Vladimirovna Zolotukhina, Yelena Vladimirovna Yudina
Rok vydání:	2013
Předmět:	Gynecology medicine.medical_specialty Fetus business.industry dup medicine Obstetrics and Gynecology Gestation Prenatal diagnosis Karyotype business Increased nuchal translucency
Zdroj:	Journal of obstetrics and woman disease. 62:88-92
ISSN:	1683-9366 1684-0461
DOI:	10.17816/jowd62288-92
Popis:	The data provided are given as an illustration of molecular-cytogenetic approach for improvement of prenatal cytogenetic diagnosis of rare chromosomal abnormalities. The main indication for prenatal karyotyping discussed herein presented with increased nuchal translucency at 10–14 weeks of gestation. The following rare chromosomal abnormalities were revealed by FIASH: microdeletion 22q11.2, r(13)(p11q22), dup(8)(p23p12), del (13)(q34), invdupY(q10), two sSNMCs of 5 and 20 chromosomes origin. The importance of improving and systematizing of the ultrasonographic diagnosis of “mild” developmental defects, providing of the expanded prenatal molecular studies and contemporary FISH-technique application is emphasized.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a9df96b3a14812b53c5c03dad6217117 https://doi.org/10.17816/jowd62288-92 Zobrazit plný text záznamu