A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

We report a de novo, apparently balanced (2;8)(q35;q21.2) translocation in a boy with developmental delay and autism. Cross species (colour) paint (Rx) and SKY FISH, forward and reverse chromosome painting, and FISH with subtelomeric probes were used to examine the patient's karyotype, but furt...

Full description

Saved in:
Bibliographic Details
Main Authors: Borg, I, Squire, M, Menzel, C, Stout, K, Morgan, D, Willatt, L, O'Brien, P, Ferguson-Smith, M, Ropers, H, Tommerup, N, Kalscheuer, V, Sargan, D
Format: Artigo
Language:Inglês
Published: BMJ Group 2002
Subjects:
Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735133/
https://ncbi.nlm.nih.gov/pubmed/12070244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.6.391
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items