Journal List > Perinatology > v.27(4) > 1071341

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


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.

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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