49,XXYY, +18 in a liveborn male.

Tetraploidy in a liveborn infant.

We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, with severely delayed growth and neurodevelopment, and with a cleft lip; these findings have not been described before. This report brings to seven the total number of liveborn infants with a 92,XXYY karyotype.

Cyclopia and sirenomelia in a liveborn infant.

Complete trisomy 9 in two liveborn infants.

Two unrelated newborn infants with multiple malformations were found to have complete trisomy 9 in all cells examined. In both, the phenotype was similar, consisting of characteristic facial appearance (microphthalmia, bulbous nose, micrognathia, cleft palate, low set ears), skeletal abnormalities (dislocated joints, flexion contractures of the fingers), cardiovascular malformations (persistent...

A liveborn infant with complete triploidy (69,XXX).

Progressive breathlessness in an 18 year old male

A fit 18 year old rugby player presented with a four month history of progressive exertional breathlessness, preceded by an unremarkable flu-like illness. There was no response to inhaled â2-agonist, oral theophylline, or inhaled corticosteroids. At assessment, he was breathless on minimal exertion with wheeze. He had never smoked cigarettes. There was no family history of chest disease. He had...