Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).

We report on a newborn white male infant with marked dysmorphic features and various congenital malformations. The initial clinical evaluation showed Crouzon-like features as well as some features of trisomy 18 syndrome and trisomy 13 syndrome. The results from conventional cytogenetic analysis show...

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Bibliografske podrobnosti
Main Authors: Brandt, C A, Djernes, B, Strømkjaer, H, Petersen, M B, Pedersen, S, Hindkjaer, J, Brinch-Iversen, J, Bruun-Petersen, G
Format: Artigo
Jezik:Inglês
Izdano: 1994
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049667/
https://ncbi.nlm.nih.gov/pubmed/8182728
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