PubMed · 1988 · 16 citations · 0 references
Life SciencesGeneticsPediatricsMedical GeneticsPediatric GeneticsReproductive MedicineChromosomal AbnormalitiesCongenital AnomaliesCongenital Malformation PathologyCongenital MalformationsGenetic DisordersGenetic SyndromesChromosome 6Q LossDe Novo Mutations In Developmental DisordersGene Deletion SyndromesMicrodeletion SyndromesSyndromic Malformation Patterns
An additional case of interstitial deletion of chromosome 6, the first with breakpoints in q12 and q14, is reported. The female infant was the malformed first child of young, healthy parents. A review of proximal 6q deletions is made.