Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

“…Jean et al reported a case with cystic hygroma of 8 mm after ICSI [3] and more recently Quenum-Miraillet et al reported a fetus with severe skeletal dysplasia [5]. Neither report mentioned fetal cardiac abnormalities.…”

“…Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa [1, 2]. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14 [3–5]. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry.…”

Robertsonian translocation (13;14) and its clinical manifestations: a literature review

“…On the basis of genotype-phenotype correlation studies, Zollino et al (2009) reported a possible correlation between scoliosis and the 14q32 region (Zollino et al, 2009). Paternal uniparental disomy and ring formation for chromosome 14 (upd[14]pat) conditions have been associated with small bell-shaped thorax phenotype (Kagami et al, 2008;Miraillet et al, 2008). Epilepsy and seizures have been associated with interstitial deletions and ring structure of chromosome 13 in two studies (Mitter et al, 2011;Bellucco et al, 2019).…”