A Case of Constitutional Interstitial Deletion of 5q.

Suk,  Hyo Jung; Gu,  Nam Hyang; Jung,  Jo Won; Park,  Moon Sung

Case Report

Journal of the Korean Society of Neonatology 2003;10(2):254-258.
Published online November 1, 2003.

A Case of Constitutional Interstitial Deletion of 5q.

Hyo Jung Suk, Nam Hyang Gu, Jo Won Jung, Moon Sung Park

Department of Pediatrics, College of Medicine, Ajou University, Suwon, Korea. drparkms@ajou.ac.kr

5번 염색체 장완 부분결실 1례

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Abstract

Constitutional interstitial deletions of 5q are rare conditions and phenotypic correlations are not well defined in the literature. We report a case of a male infant with constitutional interstitial deletion 5q15q22. The infant showed hypertelorism, cleft palate and bilateral undescended testis. He also had atrial septal defect and small patent ductus arteriosus, and showed no response in brain stem audoimetry. Our report gives weight to the previously reported cases that karyotype-phenotype correlation may be speculated in 5q deletion.

Key Words: Interstitial 5q deletion; Karyotype-phenotype correlation