Загрузка...

Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?

BACKGROUND: Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations. CASE PRESENTATION: In a markedly dysmorphic child with heart malformations and developmental delay, CGH analysis of newborn blood DNA suggested a 50% dose increase of chromosomes 8 and...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Houge, Gunnar, Lybæk, Helle, Gulati, Sasha
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2009
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2691399/
https://ncbi.nlm.nih.gov/pubmed/19445731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-42
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!