Tanteles George A, Yates Katherine, Martin Kate, Suri Mohnish
Clinical Genetics Service Cytogenetics Department, City Hospital, Nottingham, UK.
Clin Dysmorphol. 2007 Apr;16(2):101-104. doi: 10.1097/MCD.0b013e32806e0931.
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.
我们报告了一名患有6号染色体新生间质性缺失的患者，断点位于q24.3 - q25.2。该患者表现为腹腔内睾丸、轻度畸形特征、生命最初3年存在喂养困难且发育正常，无学习困难。据我们所知，这是首例具有这些特定断点的6q间质性缺失报告。这也是首例间质性6q缺失且智力发育正常的患者。隐睾症似乎是6q缺失且涉及类似断点的男性患者中的一个反复出现的表现。
