A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia

Jin Kyoung Lee; Sung-Hoon Chung; Yong-Sung Choi; Chong-Woo Bae

doi:10.14734/PN.2016.27.4.255

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Lee, Chung, Choi, and Bae: A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia

Case Report

Perinatology 2016; 27(4): 255-259.

Published online: 31 December 2016

DOI: https://doi.org/10.14734/PN.2016.27.4.255

A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia

Jin Kyoung Lee, MD, Sung-Hoon Chung, MD, PhD, Yong-Sung Choi, MD, PhD, Chong-Woo Bae, MD, PhD

Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.

Correspondence to: Chong-Woo Bae, MD. Department of Pediatrics, Kyung Hee University Hospital at Gangdong, 892 Dongnam-ro, Gangdong-gu, Seoul 05278, Korea. Tel: +82-2-440-6130, Fax: +82-2-440-7175, baecw@khnmc.or.kr

Received 26 August 2016 Revised 20 September 2016 Accepted 17 October 2016

(open-access, http://creativecommons.org/licenses/by-nc/4.0/):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The chromosome 7q terminal deletion is a rare chromosomal disorder. It was first described in 1968 and has shown to have diverse clinical phenotypes. In this report, the phenotypes include growth retardation, bulbous nasal tip, microcephaly, abnormal ears, and hearing loss. In addition, we report on a new case of 7q34 deletion presenting with hypothalamic hamartoma and biliary atresia with a review of associated literatures.

Keywords: Chromosome 7q34 deletion, Hypothalamic hamartoma, Biliary atresia

Figures and Tables

Fig. 1

Facial appearance of the patient showing small jaw, bulbous nasal tip and big ear.

Fig. 2

Total bilirubin and direct bilirubin data graph. HD, hospital day.

Fig. 3

Patient's MRI T2W axial image (A), T1W sagittal image (B) showing a 1 cm in size, iso-intensive round lesion at right suprasellar cistern, connected to right hypothalamus.

Fig. 4

Patient's peripheral blood chromosome analysis. The arrow at chromosome 7 indicates the breakpoints.

Fig. 5

Patient's hepatobiliary scan. Images showed homogeneous hepatic tracer uptake with no gastrointestinal excretion of radionuclide.

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