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We report two familial cases of 22q11.2 duplication detected using multiplex ligation-dependent probe amplification (MLPA). In the first case, eight individuals from a three-generation family were found to carry a 3-Mb 22q11.2 duplication. The individuals carrying the duplication show phenotypic variation. This phenotypic variation includes heart defect (1 in 8 individuals, 1/8), submucous cleft palate (2/8), intellectual disability (2/8), speech delay (2/8), behaviour problems (3/8) and brachydactyly (3/8). In the second case, a 1.5-Mb 22q11.2 duplication was detected in a neonate and her normal mother. The neonate presented with severe laryngomalacia causing intermittent stridor. Cranial ultrasound showed small subependymal cysts bilaterally. There was no heart defect or cleft palate, her chest X ray and renal ultrasound were normal. Review at 2 months of age revealed normal growth and development. Our findings broaden the understanding of 22q11.2 duplication syndrome and demonstrate that MLPA is sensitive for detection and sizing of 22q11.2 microduplications.

We describe an adult patient who had stridor and dyspnea as initial symptoms of a thyroglossal duct cyst. Spirometry and noninvasive imaging techniques have been useful for diagnosis of this condition.

Gastric choristoma (GC) is a relatively common congenital condition characterized by the presence of heterotopic gastric tissue outside the bounds of the gastric cavity. Although GCs may occur anywhere along the alimentary tract, they rarely occur in the hypopharynx. Hypopharyngeal GCs often declare themselves clinically during the neonatal period with life-threatening obstructive respiratory symptoms and/or feeding difficulty. We present a case of GC of the posterior pharyngeal wall manifesting as progressive dysphagia with failure to thrive and intermittent stridor.

We describe a patient considered to have intermittent stridor or wheezing, or both, which had been diagnosed as asthma. She received treatment, including corticosteroids, for almost 2 years. Endoscopic and spirometric studies permitted us to exclude potential organic causes and to comprehend better the mechanism involved in airway abnormalities of psychologic origin

We present a case of an 82-year-old lady with recurrent swelling and a history of intermittent stridor who subsequetly developed a contusion over her lower neck and upper chest. The patient collapsed on her way to have to have a CT scan and died 24 hours later of a leaking aortic aneurysen. At initial presentation the complete resolution of poorly localizing symptoms and signs almost allowed her discharge from hospital.