PubMed · 1994 · 21 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsClinical CytogeneticsClinical GenomicsCopy Number VariantsGenetic DisordersGenotype-phenotype CorrelationRare Disease GeneticsChromosomal DeletionsChromosome 14Q LossChromosome DeletionsDeletion MutationsDeletionsGene Deletion SyndromesMicrodeletion Syndromes
The first case of interstitial deletion 14q11.2q13 is related. The patient showed a severe neurological picture, microcephaly, right plagiocephaly, bilateral cryptorchidy, left hip subluxation and various dysmorphisms. The authors analyzed the characteristic symptoms in order to obtain the specific clinical phenotype. In addition they programmed a clinical follow-up to evaluate the life expectation and the evolution of the disease.