Article
De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2005
Lukusa T, Vermeesch J R, Fryns J P
Abstract excerpt
We report on a 6-year-old male patient with de novo 7q36 deletion and 8q24.3 duplication diagnosed by combining traditional G-banding and FISH studies. His clinical history was remarkable for pre- and postnatal growth retardation, neonatal feeding problems and developmental/mental retardation with non-verbal communication. He presented microcephaly, large ears, narrow palpebral fissures with blepharoptosis,...
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