Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype [Prenatal tanısı konulmuş, omfalosel ve hafif fenotipik anormalliklere sahip kısmi trizomi 3q olgusu]

Autor: Arikan D.C., Coşkun A., Arikan I., Kiran G., Ceylaner G.
Přispěvatelé: Zonguldak Bülent Ecevit Üniversitesi
Jazyk: turečtina
Rok vydání: 2010
Předmět:
Popis: Trisomy 3q is a very rarely reported chromosomal disorder. Duplication of part of the long arm of human chromosome 3 causes a distinct and severe syndrome that leads to multiple congenital abnormalities. A 27 year-old pregnant woman was admitted to our clinic at 17 weeks of gestation. Prenatal sonography identified a fetus with an omphalocele that contained the liver and bowel, mild ventriculomegaly and polyhydramnios. Amniocentesis revealed the karyotype of 46, XY, der (3) (3qter›3q21
Databáze: OpenAIRE