English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Microdeletions at 17q11.2 often encompass  NF1  gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of  NF1  gene is rarely reported.    Case presentation  Here we reported a patient carrying a novel  de novo  deletion at 17q11.2 adjacent to  NF1  gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. Chromosomal microarray analysis revealed a 1.69 Mb  de novo  deletion at 17q11.2 adjacent to  NF1  gene, which involves 43 RefSeq genes. We compared this with four overlapping deletions at this interval.    Conclusions  A rare  de novo  microdeletion at 17q11.2 not involving  NF1  gene is associated with developmental delay and dysmorphic features. Seven genes,  TAOK1 ,  PHF12 ,  NUFIP2 ,  SLC26A4 ,  SEZ6 ,  GIT1  and  TRAF4  are possible candidates for the clinical features of our patient. The delineation of this rare deletion and description of associated clinical phenotypes will help to understand the genotype-phenotype correlation of genomic imbalances at this locus.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features