Brief Clinical Report: Duplication 3p21-3pter and Cyclopia
نویسندگان
چکیده
We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).
منابع مشابه
Complete colonic duplication in children
Background: Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in 15% of gastrointestinal duplication. We report two cases of complete colonic duplications, and their characteristics. Case Presentation: We present two patients with complete colonic duplication with differ...
متن کاملNovel Presentation of Complete Coronal Urethral Duplication: a Case Report
Urethralduplication is a rare condition occurs as a congenital malformation either independently or in the setting of other congenital malformations such as caudal duplication syndrome. Its prevalence becomes even rarer if it manifests as two side-by-side tracts in coronal plan.Nonetheless, we introduce a unique presentation of complete coronal urethral duplication accompanied by astoundin...
متن کاملReport of an interesting case of small bowel duplication [Persian]
A 13 years old boy with severe abdominal pain and history of intermittent (II bleeding since the aye of 3 months, is presented. Different diagnostic procedures were unremarkable. A Tc-99m Pertechnetate abdominal study revealed abnormal radionuclide accumulation in small bowel region. Duplication of small bowel was suspected which was confirmed by surgery and patholo...
متن کاملCyclopia: A Rare Condition with Unusual Presentation – A Case Report
INTRODUCTION Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infa...
متن کاملShoulder duplication in constriction band syndrome: a case report
Abstract A 2.5 year old girl is presented with both hands constriction bands leading to distal amputations and the rare deformity of shoulder duplication in the right side accompanying constriction skin marking over the affected shoulder. The cephalomedial scapula articulated with the clavicle and the caudolateral scapula articulated with humeral head. The most important physical finding which...
متن کامل