Del (8) (q212q2200) de novo in a boy without Langer-Giedion syndrome.
A two year-old boy with congenital malformations, psychomotor retardation and absence of phenotypical features of the Langer-Giedion syndrome (LGS) was found to have a de novo del (8) (q212q2200). The comparative analysis with other 8q monosomic cases suggests the existence of at least two distinct syndromes: one due to the monosomy of a part of the segment 8q22----q24, clinically manifested as the LGS, and the other to the deletion of the band 8q21.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome