Fetal trisomy 5 mosaicism: Case report and literature review

Villa, Nicoletta; Redaelli, Serena; Borroni, Cesarina; Colombo, Carla; Roncaglia, Nadia; Sala, Elena; Crosti, Francesca; Cappellini, Anna; Dalprà, Leda

doi:10.1002/ajmg.a.31909

Cited by 10 publications

(11 citation statements)

References 12 publications

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“…Anomalies of the anus were reported by Villa et al (), and our patient also had a perineal fistula, suggesting that either trisomy 5 and/or UPD5 could be associated with developmental aberrations of the anus. IUGR was observed in our patient and those reported by Villa et al () and Sciorra et al (), which could be a feature of mosaic trisomy 5 and/or UPD5. One notable novel feature in our patient was bifid thumbs.…”

Section: Discussionsupporting

confidence: 76%

“…Table summarizes phenotypic information on cases of mosaic trisomy 5 in the literature. Villa et al () provided the most recent review of this literature, noting multiple cases of normal birth outcomes in probands with prenatally diagnosed mosaic trisomy 5. Anomalies of the anus were reported by Villa et al (), and our patient also had a perineal fistula, suggesting that either trisomy 5 and/or UPD5 could be associated with developmental aberrations of the anus.…”

Section: Discussionmentioning

confidence: 99%

“…Villa et al () provided the most recent review of this literature, noting multiple cases of normal birth outcomes in probands with prenatally diagnosed mosaic trisomy 5. Anomalies of the anus were reported by Villa et al (), and our patient also had a perineal fistula, suggesting that either trisomy 5 and/or UPD5 could be associated with developmental aberrations of the anus. IUGR was observed in our patient and those reported by Villa et al () and Sciorra et al (), which could be a feature of mosaic trisomy 5 and/or UPD5.…”

Section: Discussionmentioning

confidence: 99%

“…Mosaic trisomy 5 and uniparental disomy (UPD) of chromosome 5 are both extremely rare conditions in liveborns. Only eight cases of mosaic trisomy 5 have been described in the last 30 years (Fryburg, Dimaio, Yang‐Feng, & Mahoney, ; Villa et al, ). Sporadic cases have also been reported in abortuses (Ohama & Kisumi, ).…”

Section: Introductionmentioning

confidence: 99%

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A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

Reittinger

Helm

Boles

et al. 2017

American J of Med Genetics Pt A

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Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high-resolution chromosome analysis on peripheral blood did not identify trisomy 5. Dysmorphic features included a tall forehead with low anterior hairline, hypertelorism, low-set ears, and a prominent nose and midface. Other anomalies included bilateral bifid thumbs, hypospadias, a perineal fistula, unilateral multicystic kidney, and decreased subcutaneous fat with loose skin. He had complex congenital heart disease consisting of ventricular and atrial septal defects and polyvalvular defects. The patient died at age one after a prolonged admission. We add this case to the literature with the added benefit of data from a postnatal microarray, which was not available in other cases, to broaden the phenotype of mosaic trisomy 5 and UPD5.With the current available technology, we stress the importance of postnatal genetic testing to confirm prenatal cytogenetic findings in order to further define such phenotypes. This will provide the most accurate information and counseling to affected families.

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Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

Reittinger

Helm

Boles

et al. 2017

American J of Med Genetics Pt A

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“…Trisomy of chromosome 5 is one of the most severe forms of autosomal trisomy, and only seven cases of mosaic trisomy 5 have been reported to date. 7 8 Likewise, few cases of mosaic trisomy 5 have been diagnosed in the prenatal period 9 ; such a scenario constitutes a challenge for genetic counseling, due to the difficulty of estimating its repercussions upon the phenotype and subsequent development of the newborn infant. 7…”

Section: Introductionmentioning

confidence: 99%

Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case

et al. 2020

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Chromosomal mosaicism is defined as the presence of two or more different cell lines in an organism that originate from the same embryo. Trisomy of chromosome 5 is one of the most severe forms of autosomal trisomy and only seven cases of mosaic trisomy 5 have been reported to date. Mosaicism at prenatal level constitutes a challenge in genetic counseling, particularly in the case of mosaic trisomy 5, due to its low incidence. We report the case of a girl with a prenatal diagnosis of mosaic trisomy 5. The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote.

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Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Benn

2015

Genetic Disorders and the Fetus

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Fetal trisomy 5 mosaicism: Case report and literature review

Cited by 10 publications

References 12 publications

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

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