[De novo monosomy 4q32.1 leads to 4qter in a newborn with multiple malformations (author's transl)].
In a newborn with multiple malformations, deletion 4q32.1 leads to 4qter was observed after BrdU incorporation and staining with acridine orange. The patient's phenotype and that of five children monosomic for 4qter reported in the literature define a syndrome with a high rate of mortality due to major respiratory difficulties, laryngeal hypotonia and oedema, and complex congenital heart malformations.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D003878:Dermatoglyphics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics; D013771:Tetralogy of Fallot / Q000235:genetics
Monosomie 4q32.1 leads to 4qter survenue de novo chez un nouveau-né multimalformé.