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. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.
Dean
J C
JC
Department of Molecular and Cell Biology, Medical School, University of Aberdeen, Scotland.
Couzin
D A
DA
Gray
E S
ES
Lloyd
D J
DJ
Stephen
G S
GS
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D003616:Dandy-Walker Syndrome / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic