Add to ORKGBackground: Interstitial deletions of the long arm of chromosome 14 involving the 14q24-q32 region have been reported in less than 20 patients. Previous studies mainly attempted to delineate recognizable facial dysmorphisms; conversely, descriptions on neurological features are limited to the presence of cognitive and motor delay, but no better characterization exists. Case presentation: In this paper we report on a patient with a de novo interstitial deletion of 5.5 Mb at 14q24.3-q31.1. The deletion encompasses 84 genes, including fourteen Mendelian genes. He presented with dysmorphic face, developmental delay, paroxysmal non-epileptic events and, subsequently, epilepsy. Conclusions: The clinical and molecular evaluation of this patient an...
Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo inte...
The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromoso...
In the present study we describe a patient with characteristic brachydactily, developmental delay an...
Background: Interstitial deletions of the long arm of chromosome 14 involving the 14q24-q32 region h...
Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only b...
Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only b...
Background Few patients with interstitial deletions in the distal long arm of chromosome 14 have bee...
An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient ...
Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-ol...
Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated...
We report on an infant with a multiple congenital anomaly syndrome and severe developmental delay in...
We report a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving b...
Interstitial deletions of chromosome 3p14p12 are a rare chromosome rearrangement. Twenty-six patient...
Interstitial deletions of chromosome 3p14p12 are a rare chromosome rearrangement. Twenty-six patient...
A patient with hypotonia, blepharophimosis, ptosis, a bulbous nose, a long philtrum, upturned corner...
Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo inte...
The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromoso...
In the present study we describe a patient with characteristic brachydactily, developmental delay an...
Background: Interstitial deletions of the long arm of chromosome 14 involving the 14q24-q32 region h...
Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only b...
Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only b...
Background Few patients with interstitial deletions in the distal long arm of chromosome 14 have bee...
An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient ...
Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-ol...
Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated...
We report on an infant with a multiple congenital anomaly syndrome and severe developmental delay in...
We report a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving b...
Interstitial deletions of chromosome 3p14p12 are a rare chromosome rearrangement. Twenty-six patient...
Interstitial deletions of chromosome 3p14p12 are a rare chromosome rearrangement. Twenty-six patient...
A patient with hypotonia, blepharophimosis, ptosis, a bulbous nose, a long philtrum, upturned corner...
Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo inte...
The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromoso...
In the present study we describe a patient with characteristic brachydactily, developmental delay an...