Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletion.
We report a patient with a de-novo interstitial deletion of chromosome 6 with breakpoints at q24.3-q25.2. The patient presented with intra-abdominal testes, mild dysmorphic features, feeding difficulties in the first 3 years of life and normal development with no learning difficulties. To our knowledge this is the first report of a 6q interstitial deletion with these particular breakpoints. This is also the first patient with an interstitial 6q deletion and normal intellectual development. Cryptorchidism seems to be a recurrent finding in males with 6q deletions involving similar breakpoints.
Tanteles
George A
GA
Clinical Genetics Service Cytogenetics Department, City Hospital, Nottingham, UK.
Yates
Katherine
K
Martin
Kate
K
Suri
Mohnish
M
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D006262:Health; D006801:Humans; D008297:Male; D010641:Phenotype