2019
DOI: 10.2478/bjmg-2019-0012
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A systematic clinical review of prenatally diagnosed tetrasomy 9p

Abstract: Tetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p thus far and to identify ultrasound phenotypes that may be suggestive of this specific syndrome. A PubMed database search was done in February 2018 without any restriction of publication date orjournals, with the use of the following keywords: tetrasomy 9p, tetrasomy… Show more

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Cited by 7 publications
(20 citation statements)
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“…Historically, although several different mechanisms have been hypothesized to cause supernumerary chromosomes, all recent studies agree with the theory of maternal meiosis II nondisjunction, followed by a rearrangement or centromeric misdivision, resulting in the duplication of the short arm and loss of the long arm of the chromosome [3,6]. This phenomenon arises predominantly de novo; hence, the recurrence risk for future pregnancies is low [1].…”
Section: Discussionmentioning
confidence: 74%
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“…Historically, although several different mechanisms have been hypothesized to cause supernumerary chromosomes, all recent studies agree with the theory of maternal meiosis II nondisjunction, followed by a rearrangement or centromeric misdivision, resulting in the duplication of the short arm and loss of the long arm of the chromosome [3,6]. This phenomenon arises predominantly de novo; hence, the recurrence risk for future pregnancies is low [1].…”
Section: Discussionmentioning
confidence: 74%
“…According to prior studies, tetrasomy 9p is emerging as an easily recognizable syndrome with many recurring aberrations [1,6,12]. On ultrasound, IUGR (45%), central nervous system abnormalities (55%), such as ventriculomegaly and Dandy-Walker malformation, cleft lip and/or palate (45%), and skeletal defects, such as wide sutures and limb defects (55%) are frequently observed [3]. At birth, facial dysmorphias can be observed, including hypertelorism, ear and ocular abnormalities, micrognathia, a broad nasal root or bulbous/beaked nose, congenital heart defects, urogenital defects, and gastrointestinal malformations [1,13].…”
Section: Discussionmentioning
confidence: 99%
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“…Maternal mosaicism is a well-known contribution for discordant results leading to test failure, as demonstrated in our case report. Twenty-two antenatal cases of tetrasomy 9p have been reported to date, which were all discovered by invasive cytogenetic testing due to severe congenital abnormalities [ 22 ]. Around 68% (15/22) of those cases were mosaic state and one survived past the neonatal period.…”
Section: Discussionmentioning
confidence: 99%