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  • Title: Confirmation of proximal 1q duplication using fluorescence in situ hybridization.
    Author: Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W.
    Journal: Am J Med Genet; 1994 Mar 01; 50(1):28-31. PubMed ID: 8160749.
    Abstract:
    We report on a boy with excessively wrinkled skin, mild micro/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low-set ears, retro/micrognathia and cleft soft palate (Pierre-Robin anomaly), patent ductus arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet. The infant had a de novo dir dup(1)(pter-->q25::q12-->qter). Partial duplications involving proximal 1q have rarely been reported. Furthermore, this is the first case of proximal duplication of chromosome 1q with unequivocal identification using fluorescence in situ hybridization (FISH) with a chromosome 1 painting probe.
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