A case report of prenatally diagnosed tetrasomy 18p
Obstetrics & Gynecology Science
; : 190-193, 2013.
Article
em En
| WPRIM
| ID: wpr-181006
Biblioteca responsável:
WPRO
ABSTRACT
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.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Anus Imperfurado
/
Braço
/
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 18
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Prevalência
/
Ultrassonografia Pré-Natal
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Hibridização In Situ
/
Cardiomegalia
/
Isocromossomos
/
Complexo I de Proteína do Envoltório
Tipo de estudo:
Diagnostic_studies
/
Prevalence_studies
Limite:
Female
/
Humans
/
Pregnancy
País/Região como assunto:
Asia
Idioma:
En
Revista:
Obstetrics & Gynecology Science
Ano de publicação:
2013
Tipo de documento:
Article