Perinatology.  2016 Dec;27(4):255-259. 10.14734/PN.2016.27.4.255.

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

• Lee JK
• Chung SH
• Choi YS
• Bae CW

• KMID: 2367038
• DOI: http://doi.org/10.14734/PN.2016.27.4.255

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.

Keyword

Chromosome 7q34 deletion; Hypothalamic hamartoma; Biliary atresia

MeSH Terms

Biliary Atresia*
Chromosome Disorders
Ear
Hamartoma*
Hearing Loss
Humans
Infant*
Microcephaly
Phenotype

Figure

• 

  Fig. 1 Facial appearance of the patient showing small jaw, bulbous nasal tip and big ear.

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  Fig. 2 Total bilirubin and direct bilirubin data graph. HD, hospital day.

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  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.

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  Fig. 4 Patient's peripheral blood chromosome analysis. The arrow at chromosome 7 indicates the breakpoints.

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  Fig. 5 Patient's hepatobiliary scan. Images showed homogeneous hepatic tracer uptake with no gastrointestinal excretion of radionuclide.

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