Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population.

Unlabelled: Congenital heart disease is a common finding in patients with microdeletion of chromosome 22q11. To determine if the deletion is an epidemiologically important cause of congenital heart disease, we studied a consecutive series of children attending a paediatric cardiac clinic and of neonates diagnosed as having structural congenital heart disease. Venous blood samples were tested by fluorescent in-situ hybridisation analysis for microdeletion of chromosome 22q11 using probe D22S75.

Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings.

The present report summarizes findings on 670 cases of autosomal trisomy diagnosed in Scotland, with actual or expected dates of delivery in 1990 to 1994 inclusive. Cases were notified by cytogenetic service laboratories. There were 277 prenatal and 369 postnatal diagnoses and 24 spontaneous losses.

Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.

The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously reported in a subject mosaic for a tandem duplication involving chromosome (1)(q11q25).

Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity.

We describe a 24-year-old woman with tetramelic ectrodactyly, mandibulo-facial dysostosis and cleft uvula. This rare association has previously been reported in two families, but with ectrodactyly affecting only the feet. We propose the new term ectrodactyly-mandibulo-facial dysostosis for this entity.

Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field.

A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies.