A rare case of de novo distal 19q trisomy prenatally diagnosed

Abstract

We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality.

Partial trisomy of distal 19q detected by quantitative real‐time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay

“…Twenty‐six of the 29 reported patients were diagnosed postnatally. In only one of the prenatal cases, there is sufficient phenotypic information [Rombout et al, 2004]. In one patient, a supernumerary ring chromosome consisting of the centromere of chromosome 19 and chromosomal material from proximal 19q was found [Quack et al, 1992] (not listed in Table I), whereas in all the other patients, a partial trisomy of distal 19q was detected.…”

Clinical findings and molecular cytogenetic characterization of 19q13.42 microduplication: three cases report and literature review

“…Generally speaking, postnatal cases usually presented a variety of clinical features with high speci city characterized by growth/psychomotor retardation and craniofacial dysmorphism. It was noteworthy that only ve cases were prenatally detected, presenting various degrees of fetal abnormalities [3,4,11,21,22]. However, our cases showed no fetal structural anomalies, which indicated that prenatal trisomy 19q cases might exhibit normal or abnormal ultrasound ndings.…”

“…Trisomy 19q, could be regarded as a recognizable syndrome and associated with a wide spectrum of clinical phenotypes, including growth and psychomotor retardation, intellectual disability, low birth weight, microcephaly, short neck, heart malformations, skeletal anomalies, genitourinary anomalies, gastrointestinal defects, seizures and facial dysmorphisms (receding forehead, ptosis, hypertelorism, at nasal bridge, small nose, short philtrum, down turned mouth, ear anomalies) [4,11,12]. Most trisomy 19q cases also carry monosomy of another chromosome, which makes it di cult to establish a clear phenotype-genotype correlation.…”

De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray‐based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly

“…Duplications involving the 19q13.3!qter region with different breakpoints have been reported in 25 cases: 8 cases of isolated 19q trisomies [Schimd, 1979;Boyd et al, 1992;Bhat et al, 2000;Dorn et al, 2001;Rombout et al, 2004;Ravnan et al, 2006;DeScipio et al, 2008] and 17 cases with rearrangements involving other chromosomes [Zonana et al, 1982;James et al, 1996;Praphanphoj et al, 2000;Su et al, 2005;Ravnan et al, 2006;Sauter et al, 2007;DeScipio et al, 2008;Lenzini et al, 2010]. Conversely, chromosome 9 short arm partial deletions are less rare and are associated with intellectual disability, trigonocephaly, and dysmorphic features.…”