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Trisomy 20


Presentation

  • 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]
  • We present a case in which trisomy 20 mosaicism was diagnosed prenatally but not confirmed in the aborted foetus.[ncbi.nlm.nih.gov]
  • A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented.[ncbi.nlm.nih.gov]
  • 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
  • A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented.[ncbi.nlm.nih.gov]
  • 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) syndrome.[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]
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]
  • Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass . Prenatal Diagnosis , 21 (5), 387-389.[scholars.northwestern.edu]
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]
Hyperpigmentation
  • This is the first report to our knowledge of this karyotype where hyperpigmentation and facial clefting occurred together.[ncbi.nlm.nih.gov]
  • Histologic sections of skin biopsy specimens taken at age 6 years showed hyperpigmentation of the basal epidermal layer with prominent melanocytes and isolated melanophages in the upper dermis.[ncbi.nlm.nih.gov]
  • Common features included growth and developmental delay, skin pigmentary dysplasia with hypopigmentation and hyperpigmentation, facial or body asymmetry, and facial dysmorphism. One mentally retarded male was 18 years old at time of report.[flandershealth.us]
Eczema
  • […] 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 atopic eczema[prolekare.cz]
Suggestibility
  • It is not our intention to suggest that there is a distinctive face for this entity but to suggest that a subtle phenotype does exist.[ncbi.nlm.nih.gov]
  • This cytogenetic aberration along with her developmental delay suggests that the two findings are related and that aberration affects various fetal tissues and is not confined to extra-embryonic tissue as suggested previously.[ncbi.nlm.nih.gov]
  • It is suggested that trisomies for chromosomes of the F group are rare not because they are lethal but as a result of the morphology of the chromosomes involved.[ncbi.nlm.nih.gov]
  • These cases suggest that the multiple-marker screening test may play an important role in prenatal detection and diagnosis of chromosomal anomalies in addition to Down syndrome.[ncbi.nlm.nih.gov]
  • Cultures from seven fetal tissues in the subsequent abortus showed a predominance of 45,X cells, but nevertheless suggested the existence of a very low level of trisomy 20 mosaicism in three fetal tissues.[ncbi.nlm.nih.gov]

Treatment

  • 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]
  • But diagnosis did mean that when I became pregnant in 2005, I could have treatment to prevent miscarriage - daily injections of heparin to thin the blood. What it didn't help was that moment when I had to decide about antenatal testing.[theguardian.com]

Prognosis

  • 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]
  • 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.[biomedsearch.com]
  • 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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