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...

Full description

Saved in:
Bibliographic Details
Main Authors: Brandt, C A, Djernes, B, Strømkjaer, H, Petersen, M B, Pedersen, S, Hindkjaer, J, Brinch-Iversen, J, Bruun-Petersen, G
Format: Artigo
Language:Inglês
Published: 1994
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049667/
https://ncbi.nlm.nih.gov/pubmed/8182728
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items