Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43).
Two unrelated children, one with a proximal interstitial deletion 1 (1(pter----q21: :q25----qter] and the other one with a distal interstitial deletion 1 (1(pter----q41: :q43----qter] are presented. The clinical features of the patient with a proximal deletion (q21-q25) correspond with those of eight earlier reported cases with a deletion 1q21/22/23----q25. The second patient with the distal interstitial deletion (q41-q43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion 1q with at least one common band missing (1q42).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome