A case report of prenatally diagnosed tetrasomy 18p

Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction or centromeric mis-division during meiosis II in the vast majority of cases. It has a prevalence of 1/140,000-180,000...

Descripción completa

Detalles Bibliográficos
Autores principales: Jung, Phill-Seung, Won, Hye-Sung, Cho, In-Ji, Hyun, Min-Kyung, Shim, Jae-Yoon, Lee, Pil-Ryang, Kim, Ahm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Obstetrics and Gynecology; Korean Society of Contraception and Reproductive Health; Korean Society of Gynecologic Endocrinology; Korean Society of Gynecologic Endoscopy and Minimal Invasive Surgery; Korean Society of Maternal Fetal Medicine; Korean Society of Ultrasound in Obstetrics and Gynecology 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784115/
https://www.ncbi.nlm.nih.gov/pubmed/24328000
http://dx.doi.org/10.5468/ogs.2013.56.3.190
Descripción
Sumario:Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction or centromeric mis-division during meiosis II in the vast majority of cases. It has a prevalence of 1/140,000-180,000 live births and affects both genders equally. A 28-year-old woman was referred at 33+2 weeks gestation to rule out fetal congenital heart disease. Her prenatal ultrasonography showed intrauterine growth retardation, cardiomegaly, and imperforate anus. Doppler ultrasonographic finding showed fetal anemia. Tetrasomy 18p was confirmed by conventional karyotyping and fluorescence in situ hybridization. Because of its very low prevalence rate, only several cases of tetrasomy 18p has been reported worldwide and it has not yet been reported in Korea before. Therefore, we report a case of prenatally diagnosed tetrasomy 18p.

Ejemplares similares