Trisomy 12p Syndrome Presenting with Fetal Growth Restriction and Polyhydramnios
- Authors
- Jung Eun Park; Ki-Jin Ryu; Seung Hyun Nam; Geum Joon Cho; Soon-Cheol Hong; Min-Jeong Oh; Hai-Joong Kim; Ki-Hoon Ahn
- Issue Date
- Jun-2020
- Keywords
- Chromosome aberrations; Fetal growth retardation; Polyhydramnios; Chromosome 12; 12p trisomy
- Citation
- Perinatology, v.31, no.2, pp 85 - 89
- Pages
- 5
- Indexed
- KCI
KCICANDI
- Journal Title
- Perinatology
- Volume
- 31
- Number
- 2
- Start Page
- 85
- End Page
- 89
- URI
- https://scholarworks.korea.ac.kr/kumedicine/handle/2020.sw.kumedicine/52799
- ISSN
- 2508-4887
- Abstract
- A 39-year-old nulliparous woman was referred at 36+6 weeks gestational age, and a prenatal fetal ultrasonography examination found fetal growth restriction (2,190 g <5%), polyhydramnios (amniotic fluid index: 31.76 cm), and absent end-diastolic flow in the umbilical artery. A male baby was born, and fetal dysmorphism including round face, long philtrum, low-set ears, chest retraction, edematous hands and feet, and a simian line on both hands were identified. He was diagnosed with trisomy 12p [der(18)t(12;18)(p11.2;p11.31)] by chromosomal study. The father’s chromosomes appeared normal; however, the mother’s chromosomes had a balanced translocation identified as t(12;18)(p11.2;p11.31). Patent ductus arteriosus, germinal matrix hemorrhage, and hemivertebrae were diagnosed, and respiratory distress, hyperinsulinemic hypoglycemia, and hypothyroidism were also detected. The combination of fetal growth restriction and polyhydramnios may be a significant sign of chromosomal abnormalities, and targeted sonography and a chromosomal analysis should be offered prenatally in such cases.
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- Appears in
Collections - 2. Clinical Science > Department of Obstetrics and Gynecology > 1. Journal Articles
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