Abstract
BackgroundBilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH.Case presentationA 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 weeks of gestation: polyhydramnios, macroglossia, talipes equinovarus, and levocardia. A marker chromosome was detected by amniocentesis. Fluorescence in situ hybridization with whole chromosome paint 5 and nucleolus organizer region probes confirmed its origin from chromosome 5 and an acrocentric chromosome. The karyotype of the fetus was diagnosed as 47, XY, +mar. ish +mar(WCP5+). At 39 + 5 weeks, a 2462 g male infant was delivered, with a specific facial configuration. Bilateral CDH, hypoplasia of the corpus callosum, atrial septal defect, and hypothyroidism were also detected in the baby. The karyotype of the peripheral blood was consistent with that of the amniocentesis.ConclusionGenes coded on 5p might be associated with the pathogenesis of CDH; however, further investigation is required.
Highlights
Bilateral congenital diaphragmatic hernia (CDH) is very rare
Most cases of CDH occur on the left side; bilateral CDH accounts for only 1% of all CDH cases [5]
*Correspondence: itoto@med.nagoya‐u.ac.jp 1 Department of Obstetrics and Gynecology, Nagoya University Graduate School of Medicine, 65 Tsurumai‐cho, Showa‐ku, Nagoya 466‐8550, Japan Full list of author information is available at the end of the article pathological causes of CDH remain unknown; increasing evidence shows its relationship to genetic or chromosomal abnormalities [6]
Summary
Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the patho‐ genic role of 5p in CDH.Case presentation: A 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 weeks of gestation: polyhydramnios, macroglossia, talipes equinovarus, and levocardia. Background Trisomy 5p is a rare chromosomal abnormality with the following clinical features: facial dysmorphism, brain abnormalities, heart defects, hypotonia, talipes equinovarus, respiratory difficulties, developmental delay, and mental retardation [1,2,3]. Trisomy 5p is a chromosome 5p13 duplication syndrome (OMIM #613174). Congenital diaphragmatic hernia (CDH) is a lifethreatening disease with congenital defects of the diaphragm, and an incidence of 2–3 per 10,000 births [4].
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