Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q. [electronic resource]
Producer: 20051205Description: 497-503 p. digitalISSN:- 1093-5266
- 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
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Publication Type: Case Reports; Journal Article
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