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Trisomy 20


Presentation

  • We present a case in which trisomy 20 mosaicism was diagnosed prenatally but not confirmed in the aborted foetus.[ncbi.nlm.nih.gov]
  • A review of five previously reported cases is presented. Explanations of these findings include in vitro nondisjunction, culture of extraembryonic tissue, and true fetal mosaicism. The diagnostic dilemma this presents is discussed.[ncbi.nlm.nih.gov]
  • Abstract A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented.[ncbi.nlm.nih.gov]
  • Abstract An additional case of amniotic fluid trisomy 20 mosaicism is presented. After careful counselling, the pregnancy continued and a phenotypically normal female was delivered.[ncbi.nlm.nih.gov]
  • Severe abnormalities are frequently present in these embryos. We report the case of prenatally diagnosed non-mosaic trisomy 20 with only minor anomalies in the fetus.[ncbi.nlm.nih.gov]
Multiple Congenital Anomalies
  • Abstract A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented.[ncbi.nlm.nih.gov]
  • Abstract We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial appearance, and minor skeletal anomalies, all very suggestive of the partial trisomy 20(p)[ncbi.nlm.nih.gov]
  • We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells.[ncbi.nlm.nih.gov]
  • Nonetheless, some abnormal outcomes have been reported, including unexplained fetal demise, intrauterine growth restriction, and multiple congenital anomalies.[ncbi.nlm.nih.gov]
  • .: Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.[thieme-connect.com]
Weight Gain
  • Abstract Chromosome determination in a girl who at birth had an abnormal appearance and a cat's cry, and later a poor weight gain and psychomotor retardation, showed a probable trisomy of chromosome pair no. 20.[ncbi.nlm.nih.gov]
Abdominal Mass
  • We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration.[ncbi.nlm.nih.gov]
Macroglossia
  • […] tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary dysplasia of the skin, dorsal kyphoscoliosis, and other skeletal defects.[medical-dictionary.thefreedictionary.com]
Macrostomia
  • […] tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary dysplasia of the skin, dorsal kyphoscoliosis, and other skeletal defects.[medical-dictionary.thefreedictionary.com]
Delayed Closure of Fontanelles
  • Clinical examination of the baby showed only minor phenotypic signs (bilateral epicanthal folds, delayed closure of fontanel with no other gross anomalies), but demonstrated a considerable developmental delay in gross and fine motor skills along with[ncbi.nlm.nih.gov]
Language Delays

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Current treatment procedures Infantile hemangiomas are the most common benign tumors Thrombotic microangiopathies – hemolytic-uremic syndromes and thrombotic thrombocytopenic purpura Thrombotic microangiopathies are a heterogeneous group of disease Nonhealing[prolekare.cz]
  • In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 4 th Edition. Ed by Milunsky A.[mosaicism.bcchr.ca]
  • Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional.[betterhealth.vic.gov.au]
  • However, there’s no definitive method of treatment and no way to correct the chromosomal abnormality itself.[healthline.com]

Prognosis

  • CONCLUSION: Based on these 2 well-documented, prenatally diagnosed cases, as far as genetic counseling is concerned, nonmosaic trisomy 20 is much less challenging than its mosaic form since the prognosis is uniformly poor in the former.[ncbi.nlm.nih.gov]
  • Conclusion: Based on these 2 well-documented, prenatally diagnosed cases, as far as genetic counseling is concerned, nonmosaic trisomy 20 is much less challenging than its mosaic form since the prognosis is uniformly poor in the former.[hungary.pure.elsevier.com]
  • 日本新生児成育医学会雑誌 30(1):39-47;2018 日本新生児成育医学会雑誌 第30巻 第1号 39-47頁(2018年) 受付日:平成29.02.01 受理日:平成29.05.25 先天性心疾患を合併した18 トリソミーへの積極的治療と予後―広島市周産期医療圏での検討― Prognosis of Patients with Trisomy 18 after Cardiac Surgery ―An analysis of Perinatal Medical Centers in Hiroshima[jsnhd.or.jp]
  • In fact, most cases of mosaicism, even when detected in AF cultures, will have a good prognosis (see e.g., Hsu et al., 1997; Wallerstein et al., 2000).[what-when-how.com]

Etiology

  • Primary cell cultures obtained from tumor specimens showed a trisomy of chromosome 20 where the c-src proto-oncogene, already described in literature as having an important role in the etiology and progression of some tumors, is located.[ncbi.nlm.nih.gov]
  • There is also evidence for the involvement of maternal cells in the etiology of neonatal or juvenile autoimmune disorders (Stevens et al., 2003).[what-when-how.com]

Epidemiology

  • Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology[prolekare.cz]
Sex distribution
Age distribution

Prevention

  • Finally, tests revealed that there was a reason at least for the miscarriages: I had antiphospholipid syndrome, which means that my blood clots too easily, usually preventing pregnancies from taking hold.[theguardian.com]
  • In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 4 th Edition. Ed by Milunsky A.[mosaicism.bcchr.ca]
  • I don't think they know a lot about what causes it, nor how or if it is preventable. I think it is just a genetic fluke. I am so sorry to hear that you are going through this stress.[whattoexpect.com]
  • The cause of this is unknown and prevention is not possible. The most important risk factor for trisomy disorders is maternal age. Women in their late 30s and 40s are more likely to have babies with trisomy than younger women.[betterhealth.vic.gov.au]
  • There is nothing that the mother or father could do to cause it or prevent it. Figuring Out Your Risk There are many factors that can affect a woman’s chances of having a second trisomy pregnancy.[genetics.thetech.org]

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