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...

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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2002
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Original Article
Acesso em linha: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
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