Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review. 2022

Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases.

UI MeSH Term Description Entries

Related Publications

Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
November 2018, Journal of medical case reports,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
January 2007, Genetic counseling (Geneva, Switzerland),
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
January 1979, Human genetics,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
December 2010, Ginekologia polska,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
May 2021, Taiwanese journal of obstetrics & gynecology,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
January 2014, Clinical imaging,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
January 1986, Annales de genetique,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
December 2021, Molecular genetics & genomic medicine,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
January 1992, Annales de genetique,
Kuntharee Traisrisilp, and Yuri Yanase, and Krittaya Phirom, and Theera Tongsong
January 1988, Annales de genetique,
Copied contents to your clipboard!