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Open Med (Wars). 2018 Sep 29;13:433-435. doi: 10.1515/med-2018-0064. eCollection 2018.

Partial Deletion of the Long Arm of Chromosome 7: A Case Report.

Open medicine (Warsaw, Poland)

Chun Zhu, Mei-Ling Tong, Xia Chi

Affiliations

  1. Department of Child Health Care, The Affiliated Obstetrics and Gynecology Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu 210004, China.

PMID: 30294678 PMCID: PMC6172522 DOI: 10.1515/med-2018-0064

Abstract

Study advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

Keywords: Chromosome 7; Growth retardation; Partial deletion of the long arm

Conflict of interest statement

Competing interests: The authors declare that they have no competing interests.

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