Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q.

de Pater, J M

Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q. [electronic resource] - Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 497-503 p. digital

Publication Type: Case Reports; Journal Article

1093-5266

10.1007/s10024-005-0041-8 doi


Abnormalities, Multiple--genetics
Abortion, Eugenic
Adult
Chorionic Villi Sampling
Chromosomes, Human, Pair 14
Face--abnormalities
Female
Gene Deletion
Gestational Age
Humans
In Situ Hybridization, Fluorescence
Intercellular Signaling Peptides and Proteins
Jagged-2 Protein
Male
Membrane Proteins--genetics
Nuchal Translucency Measurement
Nucleic Acid Hybridization--methods
Pregnancy
Thymus Gland--abnormalities
Translocation, Genetic
Trisomy
Ultrasonography, Prenatal
YY1 Transcription Factor--genetics