Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication.

CONCLUSION: Almost all patients' clinical features were associated with 18q- syndrome. There are very few reported cases with similar genotype possibly caused by a de novo unequal recombination mechanism. PMID: 32468472 [PubMed - in process]
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research