Trisomy 9: Review and report of two new cases

Arnold, Georgianne L.; Kirby, Russell S.; Stern, Thomas; Sawyer, Jeffrey R.

doi:10.1002/ajmg.1320560303

Cited by 69 publications

(68 citation statements)

References 32 publications

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“…Therefore, maternal UPD(9) appears to be without major clinical consequences unless a recessive mutation is reduced to homozygosity, 18,19 whereas trisomy 9 mosaicism results in severe congenital anomalies. 20,21 In this respect, we believe that the more probable cause for the abortion event in case 1 is not UPD(9)mat, but purulent chorioamnionits.…”

Section: Discussionmentioning

confidence: 81%

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

et al. 2001

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Approximately 15 ± 20% of all clinically recognised pregnancies abort, most commonly between 8 ± 12 gestational weeks. While the majority of early pregnancy losses is attributed to cytogenetic abnormalities, the aetiology of approximately 40% of early abortions remains unclear. To determine additional factors causing spontaneous abortions we retrospectively searched for uniparental disomies (UPD) in 77 cytogenetically normal diploid spontaneous abortions. In all cases an unbalanced chromosome anomaly was ruled out by cytogenetic investigation of chorionic/amniotic membranes and/or chorionic villi. For UPD screening microsatellite analyses were performed on DNA of abortion specimens and parental blood using highly polymorphic markers showing UPD in two cases. The distribution of markers analysed indicated maternal heterodisomy for chromosome 9 (UPhD(9)mat) in case 1 and paternal isodisomy for chromosome 21 (UPiD(21)pat) in case 2. The originating mechanism suggested was monosomy complementation in UPiD(21)pat and trisomy rescue in UPhD(9)mat. In the case of UPhD(9)mat purulent chorioamnionitis was noted and a distinctly growth retarded embryo of 3 cm crown-rump length showing no gross external malformations. Histological analysis in the case of UPiD(21)pat suggested a primary anlage defect. Our results indicate that less than 3% of genetically unexplained pregnancy wastage is associated with total chromosome UPD. UPD may contribute to anlage defects of human conception. Chromosome aneuploidy correction can occur in very early cleavage stages. More research, however, ought to be performed into placental mosaicism to further clarify timing and mechanisms involved in foetal UPD. European Journal of Human Genetics (2001) 9, 910 ± 916.

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Section: Discussionmentioning

confidence: 81%

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

et al. 2001

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“…It is almost always lethal in utero or early in the postnatal period, with survival generally not extending beyond 9 months of age. 4,[6][7][8][9] The majority of live-born and surviving individuals with trisomy 9 have a mosaic karyotype (47XX/46XX or 47XY/46/XY). The phenotype is similar to that seen in full trisomy 9 syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…The phenotype is similar to that seen in full trisomy 9 syndrome. 4,8,10,11 In the limited body of literature on children and adults with trisomy 9 mosaicism, a number of cases of congenital heart disease have been described. 3 Patients with ventricular and atrial septal defects, patent ductus arteriosus, and arch anomalies with vascular rings have been reported.…”

Section: Discussionmentioning

confidence: 99%

Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report

Riley

Moore

Eagelston

et al. 2017

Anesthesia Progress

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A 27-year-old female with Trisomy 9 mosaicism presented to Children's Hospital Colorado for outpatient dental surgery under general anesthesia. The patient's past medical history was also significant for premature birth, gastroesophageal reflux, scoliosis and kyphosis, obesity, and developmental delay. Per her mother's report, the patient had no cardiac issues. She had undergone multiple previous general anesthetics, some of which documented respiratory complications such as laryngospasm, bronchospasm, and possible aspiration. During this anesthetic, the patient became hypotensive on induction, with sluggish response to intravenous fluids, glycopyrrolate, and ephedrine. Her electrocardiogram demonstrated what appeared to be left bundle branch block at baseline, with possible ST segment changes after induction. Due to her abnormal reaction to the induction and subsequent treatment for hypotension, an echocardiogram was performed. The patient was found to have an ejection fraction of 25%-30%. The anesthetic was uneventful for the remainder of the procedure, and following recovery, the patient was admitted by the heart failure team for further care.

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“…Growth retardation, mental retardation, brain, facial, cardiac, renal and skeletal abnormalities are seen in trisomy 9. The mosaic forms of trisomy 9 are less severe symptoms and good prognosis in the literature 3,6 .…”

Section: Discussionmentioning

confidence: 99%

“…Complete trisomy 9 results spontaneous abortion in first trimester and is rarely seen in live-born infants with multiple malformations and results in early death. Trisomy 9 mosaicism is associated with prolonged survival and variable clinical features 2,3 . Epilepsy and mental retardation are the most common neurological symptom in chromosomal abnormality 4 .…”

Section: Introductionmentioning

confidence: 99%

Epilepsi ve Fasiyal Dismorfizm ile Gelen Trizomi 9 Mozaisizm: Bir Olgu Sunumu

İncecik¹,

Hergüner²,

Mert³

et al. 2014

Cukurova Medical Journal

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Trisomy 9 syndrome is a rare genetic disorder. Trisomy 9 has two forms; 1) mosaic, 2) non-mosaic. The patients usually present similar clinical features, independent of the presence of mosaicism, characterized by growth retardation, mental deficiency and brain, facial, cardiac, renal and skeletal abnormalities. Developmental delay and mental retardation are the most common neurological symptom in trisomy 9 mosaicism in our knowledge. Epilepsy associated with this syndrome has not found in literature. We describe a 10-year-old boy with trisomy 9 mosaicism who presented seizures, and dysmorfic features.

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Trisomy 9: Review and report of two new cases

Cited by 69 publications

References 32 publications

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report

Epilepsi ve Fasiyal Dismorfizm ile Gelen Trizomi 9 Mozaisizm: Bir Olgu Sunumu

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