A Case of Short Arm Deletion and Long Arm Duplication at Chromosome 3

Kong, Seung Hyun; Seo, Jeong Il; Kang, Jang Hui; Jung, So Young; Mok, Ji Sun

Abstract

The long arm duplication of chromosome 3 was reported for the first time in 1966 by Falek et al., and Hirschhorn et al. came to identify the duplication of 3q21--> qter region in 1973. In most cases of duplication 3q syndrome patients, pure duplication of 3qter is believed to be rare and is often reported accompanied with deletion of another segment of the chromosome. Approximately 75 percent of parents of the patient in the meantime have been demonstrated to have unbalanced translocations or inversions of the chromosome. Partial deletion of the distal part of the short arm of chromosome 3 was first reported by Verjaal and De Nef in 1978 and terminal deletion of chromosome 3 (3p25- qter) has been observed in most cases. In karyotyping of chromosomes of immature infants showing the manifestations of flat occiputs, low set ears, hypertelorism, broad nasal roots, thin lips, web necks, hypotonia, hypertrichosis skin, cryptorchidism etc, we experienced a case diagnosed as 46, XY, rec (3) dup (3) (q21) del (3) (p25) inv (3) (p25q21).