Chromosome 11 long arm partial deletion: a new syndrome.
Deletion of the distal end of the long arm of a chromosome 11 (11q-) was demonstrated by G-bands in a malformed 4.3-year-old girl. Comparison of her phenotype with those of the four previously reported cases of 11q-, three with a proven and one a presumed similar deletion, suggests that this defect results in a clinical picture most noticeable for the association of variable mental retardation, marked speech deficit, trigonocephaly, and pronounced growth failure.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005145:Face; D005260:Female; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007621:Karyotyping; D012886:Skull / Q000002:abnormalities; D013064:Speech Disorders / Q000209:etiology; D013577:Syndrome