Llwytho...

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted in the loss of 68 genes, among which 5 genes (COX4...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Iourov, Ivan Y., Vorsanova, Svetlana G., Kurinnaia, Oxana S., Yurov, Yuri B.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi Publishing Corporation 2013
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3586477/
https://ncbi.nlm.nih.gov/pubmed/23476833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/353028
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!