Ερευνητικό υλικό ΕΚΠΑ

Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature

Αγγλικά

Δεν υπάρχει περίληψη

2012

Manolakos, E.
Sifakis, S.
Sotiriou, S.
Peitsidis, P.
Eleftheriades, M.
Mersinias, V.
Liehr, T.
Thomaidis, L.
Kitsos, G.
Papoulidis, I.
Petersen, M.B.
Orru, S.

Clinical Dysmorphology

21

2

101-105

genomic DNA, adult; amnion cell; article; case report; chorion villus sampling; chromosome 1q; chromosome analysis; chromosome deletion; chromosome duplication; chromosome inversion; chromosome rearrangement; copy number variation; Down syndrome; embryo; female; fetus; fetus echography; fetus hydrops; fluorescence in situ hybridization; genetic counseling; genetic risk; human; human cell; karyotype; medical literature; nuchal translucency measurement; partial trisomy; partial trisomy 1q; polymerase chain reaction; pregnancy termination; prenatal screening; priority journal, Adult; Chromosome Deletion; Chromosome Duplication; Chromosome Inversion; Chromosomes, Human, Pair 1; Cytogenetic Analysis; Female; Fetal Diseases; Fetus; Humans; Hydrops Fetalis; Nuchal Translucency Measurement; Pregnancy; Prenatal Diagnosis; Trisomy

https://doi.org/10.1097/MCD.0b013e32834e9279

10.1097/MCD.0b013e32834e9279

https://pergamos.lib.uoa.gr/uoa/dl/object/3128868