A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin

Introduction: Chromosome 18 trisomy or Edwards syndrome (ED) is characterized by wide clinical manifestations, usually associated with neurological symptoms and a poor prognosis. Objective, materials and methods: Describe the clinical findings, especially the neurological ones, of a sample of patients with mosaic chromosome 18 trisomy. These were evaluated at a Clinical Genetics Service from 1975 to 2008. Results: During the study, 50 patients with ED were diagnosed, 5 of them (10%) in mosaic. The average number of cells analyzed in these cases was 27,8. Three of the 5 patients (60%) were male. The age at evaluation ranged from 14 to 5926 days (median 93 days). The small number of clinical findings described was noteworthy, both in the dysmorphological evaluation and complementary exams. The main changes were micrognathia (n = 3), low ears implanted (n = 2), retroverted ears (n = 3), clenched fists with overlapping toes (n = 2) and clubfoot (n = 1). As for internal organs, congenital heart disease was reported in 2 cases (40%). All patients had a history of delayed neuropsychomotor development. The older patient also had a description of cognitive impairment and seizures. Conclusions: The clinical presentation of our patients is consistent with what is described in the literature, since they point out due to small number of changes. However, the delay in neuropsychomotor development and neurological symptoms are constant findings. Thus, pediatricians and neurologists should be aware of this possibility.

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Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes

Human Molecular Genetics ◽

10.1093/hmg/ddz279 ◽

2019 ◽

Vol 29 (2) ◽

pp. 238-247

Author(s):

Igor Albizua ◽

Pankaj Chopra ◽

Stephanie L Sherman ◽

Michael J Gambello ◽

Stephen T Warren

Keyword(s):

Birth Defects ◽

Trisomy 18 ◽

Multiple Birth ◽

Chromosome 18 ◽

Extra Copy ◽

Altered Expression ◽

Genomic Expression ◽

Autosomal Trisomy ◽

Edwards Syndrome ◽

Genome Wide

Abstract Trisomy 18, sometimes called Edwards syndrome, occurs in about 1 in 6000 live births and causes multiple birth defects in affected infants. The extra copy of chromosome 18 causes the altered expression of many genes and leads to severe skeletal, cardiovascular and neurological systems malformations as well as other medical problems. Due to the low rate of survival and the massive genetic imbalance, little research has been aimed at understanding the molecular consequences of trisomy 18 or considering potential therapeutic approaches. Our research is the first study to characterize whole-genome expression in fibroblast cells obtained from two patients with trisomy 18 and two matched controls, with follow-up expression confirmation studies on six independent controls. We show a detailed analysis of the most highly dysregulated genes on chromosome 18 and those genome-wide. The identified effector genes and the dysregulated downstream pathways provide hints of possible genotype–phenotype relationships to some of the most common symptoms observed in trisomy 18. We also provide a possible explanation for the sex-specific differences in survival, a unique characteristic of trisomy 18. Our analysis of genome-wide expression data moves us closer to understanding the molecular consequences of the second most common human autosomal trisomy of infants who survive to term. These insights might also translate to the understanding of the etiology of associated birth defects and medical conditions among those with trisomy 18.

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Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(20000515)92:2<101::aid-ajmg4>3.0.co;2-u ◽

2000 ◽

Vol 92 (2) ◽

pp. 101-106 ◽

Cited By ~ 13

Author(s):

Guner Oner ◽

Anna Jauch ◽

Thomas Eggermann ◽

R. Hardwick ◽

Stefan Kirsch ◽

...

Keyword(s):

Chromosome 18 ◽

Paternal Origin ◽

Fish Mapping ◽

Trisomy 18P

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A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach

The Cleft Palate-Craniofacial Journal ◽

10.1597/08-262 ◽

2009 ◽

pp. 091202121239062

Author(s):

Takashi Ono ◽

Mizue Okuma ◽

Takashi Hamada ◽

Nobuyoshi Motohashi ◽

Keiji Moriyama

Keyword(s):

Ring Chromosome ◽

Chromosome 18 ◽

Ring Chromosome 18

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Postnatal ultrasound diagnosis of middle interhemispheric variant of holoprosencephaly in a newborn with Edwards syndrome

10.21516/2413-1458-2019-18-3-253-258 ◽

2019 ◽

Author(s):

M.V. Kubrina, T.N. Melnik

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Ultrasound Diagnosis ◽

Resonance Imaging ◽

Edwards Syndrome ◽

Literary Sources

A case of postnatal ultrasound diagnosis the middle interhemispheric variant of holoprosencephaly in a newborn with Edwards syndrome is presented. The characteristic postnatal ultrasound signs of this variant of holoprosencephaly and signs of magnetic resonance imaging of this pathology according to literary sources are presented.

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Monosomy of chromosome 18 detected by fluorescence in situ hybridization in colorectal tumors

Cancer ◽

10.1002/1097-0142(19951001)76:7<1132::aid-cncr2820760706>3.0.co;2-j ◽

1995 ◽

Vol 76 (7) ◽

pp. 1132-1138 ◽

Cited By ~ 8

Author(s):

Kohsuke Sasaki ◽

Toshihiko Sato ◽

Akira Kurose ◽

Noriyuki Uesugi ◽

Eiichi Ikeda

Keyword(s):

In Situ Hybridization ◽

Fluorescence In Situ Hybridization ◽

Colorectal Tumors ◽

Chromosome 18

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Quantitative Trait Loci Associated with Rotylenchulus reniformis Host Suitability in Soybean

Phytopathology ◽

10.1094/phyto-02-20-0035-r ◽

2020 ◽

Vol 110 (9) ◽

pp. 1511-1521

Author(s):

Juliet Wilkes ◽

Christopher Saski ◽

Mariola Klepadlo ◽

Benjamin Fallen ◽

Paula Agudelo

Keyword(s):

Quantitative Trait Loci ◽

Qtl Analysis ◽

Quantitative Trait ◽

The United States ◽

Host Suitability ◽

Reniform Nematode ◽

Rotylenchulus Reniformis ◽

Chromosome 18 ◽

Nematode Reproduction ◽

Trait Loci

Reniform nematode (Rotylenchulus reniformis) is a yield-limiting pathogen of soybean (Glycine max) in the southeastern region of the United States. A population of 250 recombinant inbred lines (RIL) (F2:8) developed from a cross between reniform nematode resistant soybean cultivar Forrest and susceptible cultivar Williams 82 was utilized to identify regions associated with host suitability. A genetic linkage map was constructed using single-nucleotide polymorphism markers generated by genotyping-by-sequencing. The phenotype was measured in the RIL population and resistance was characterized using normalized and transformed nematode reproduction indices in an optimal univariate cluster analysis. Quantitative trait loci (QTL) analysis using normalized phenotype scores identified two QTLs on each arm of chromosome 18 (rrn-1 and rrn-2). The same QTL analysis performed with log10(x) transformed phenotype data also identified two QTLs: one on chromosome 18 overlapping the same region in the other analysis (rrn-1), and one on chromosome 11 (rrn-3). While rrn-1 and rrn-3 have been reported associated with reduced reproduction of reniform nematode, this is the first report of the rrn-2 region associated with host suitability to reniform nematode. The resistant parent allele at rrn-2 showed an inverse relationship with the resistance phenotype, correlating with an increase in nematode reproduction or host suitability. Several candidate genes within these regions corresponded with host plant defense systems. Interestingly, a characteristic pathogen resistance gene with a leucine-rich repeat was discovered within rrn-2. These genetic markers can be used by soybean breeders in marker-assisted selection to develop lines with resistance to reniform nematode.

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A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?

Journal of Child Science ◽

10.1055/s-0040-1722275 ◽

2021 ◽

Vol 11 (01) ◽

pp. e41-e44

Author(s):

Ravindran Ankathil ◽

Foong Eva ◽

Zulaikha Abu Bakar ◽

Nazihah Mohd Yunus ◽

Nurul Alia Nawi ◽

...

Keyword(s):

Birth Weight ◽

Blood Sample ◽

Cell Line ◽

Apgar Score ◽

Cytogenetic Analysis ◽

Rare Case ◽

Trisomy 18 ◽

Normal Female ◽

Conventional Cytogenetic Analysis ◽

Edwards Syndrome

Our objective is to report one rare case of dual gender chimerism involving abnormal male trisomy 18 and normal female karyotype. The baby was born full term with birth weight of 1.8 kg, not vigorous with light meconium stained liquor and Apgar score of 51, 85 and 910. Parents are 40 years old and mother is G6P5 + 1. The baby had clinical features of Edwards syndrome, and a blood sample was sent to Human Genome Centre, Universiti Sains Malaysia, Malaysia for cytogenetic analysis. Conventional cytogenetic analysis results showed two distinct sex discordant genetic cell lines XY and XX in 90:10 ratio. The male genetic cell line XY also showed trisomy 18 (47,XY, + 18) consistent with clinical diagnosis of male Edwards syndrome, whereas the second genetic cell line showed normal 46,XX female. The present case was reported as dual gender chimera with chi 47,XY, + 18/46,XX karyotype pattern. To the best of available knowledge, dual gender chimerism with abnormal male trisomy 18 and normal female karyotype has not been reported so far, and this case is reported for its rarity and as the first report.

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