We report on a newborn girl with a terminal deletion of the long arm of chromosome 10: del (10)(pter----q26). The phenotypic manifestations are compatible with those of the previously reported cases. In addition, the association with abnormalities of the urinary tract is reported for the first time. A clinical and neurodevelopmental follow-up is described up to age 18 months.

We report a male infant with a de novo inverted duplication of bands 8p 21.1 → 22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.

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We describe a new case of congenital hypofibrinogenemia revealed by the dramatic occurrence of a perinatal intracranial hemorrhage, which resulted in diffuse multicystic encephalopathy with severe hydrocephalus. The family history was negative for hemorrhagic tendency, but the assessment of a complete coagulation study showed the presence of low fibrinogen coagulant and antigen plasma levels both in the patient and in her 5-year-old healthy sister. Because the hereditary transmission of the disease is autosomal recessive, similar fibrinogen concentrations were expected in the two affected sisters. However, the patient showed lower levels than the sister (14 mg/dl and 46 mg/dl, respectively): a different phenotypic expression of the disorder or the different age of the two sisters could provide some explanation. Moreover, we emphasize the importance of neonatal coagulative screening for the diagnosis of such defects.