De novo t(4;5)(q3100;q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment.
An 8-month-old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q1300;q2200) with del(5)(q1500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5q15 as the correspondent critical segment.
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D006801:Humans; D007223:Infant; D008297:Male; D009006:Monosomy; D013577:Syndrome; D014178:Translocation, Genetic