Chromosome 7q Deletion Syndrome [46, XX, del(7)(q34)] with Hydronephrosis.

Sung,  Nam Ju; Kim,  Me Jin; Kim,  Young Ho; Jung,  Ji A; Yang,  Seung; Hwang,  Il Tae; Lee,  Hae Ran

Case Report

Journal of the Korean Society of Neonatology 2005;12(2):217-221.
Published online November 1, 2005.

Chromosome 7q Deletion Syndrome [46, XX, del(7)(q34)] with Hydronephrosis.

Nam Ju Sung, Me Jin Kim, Young Ho Kim, Ji A Jung, Seung Yang, Il Tae Hwang, Hae Ran Lee

Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea. ithwang83@hallym.or.kr

수신증을 동반한 7번 염색체 장완 결실 [46, XX, del(7)(q34)] 1례

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Abstract

Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a "7q deletion syndrome" include; low birth weight, postnatal growth retardation, mental retardation, developmental delay, microcephaly, congenital heart disease, hypotonia, bulbous nasal tip and abnormal ears. We report a case of 7q deletion syndrome with microcephaly, upslanting palpabral fissure, micrognathia, bulbous nasal tip, developmental delay and hydronephrosis.

Key Words: Chromosome 7q deletion syndrome; Hydronephrosis

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