Interstitial 14q31.3-q32.13 deletion

Aim: With the exception of ring chromosome 14 or translocations, interstitial deletions of the long arm of chromosome 14 are very rare. All patients with these deletions share common phenotypic characteristics, primarily mild dysmorphia and developmental delay. Molecular karyotyping (array CGH) enabled the precise breakpoint determination and improved the analysis of genotype-phenotype correlations. Case presentation: In a 7-year-old girl, array CGH was performed due to developmental delay. The array CGH study showed 8.3Mb de novo interstitial deletion of the 14q31.3–q32.13 region. Conclusions: Comparison of our patient´s phenotype with previously reported chromosome 14q interstitial deletion cases confirmed the presence of common clinical features and highlights the utility of array CGH as a diagnostic tool in clarifying the developmental delay etiology.

A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

Introduction: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. The cranial computer tomography showed partial agenesis of the corpus callosum and ventriculomegaly.Conclusions: Cytogenetic analysis or molecular techniques are necessary to establish the correct diagnosis in patients with multiple congenital anomalies in association with proximal or distal interstitial 14q deletion.