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Mosaic Trisomy 1

Warkany Syndrome


Presentation

  • Warkany's syndrome presents a wide phenotypic variability, as observed in a series of reported cases, in both the clinical presentation and cytogenetic analyses are variable.[colombiamedica.univalle.edu.co]
  • We present the longest known surviving case of a male infant with a mosaic complete trisomy 1q.[ncbi.nlm.nih.gov]
  • On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are[icd10data.com]
  • UPD(14)mat may be presented as isodisomy or heterodisomy or as a mixture of both.[molecularcytogenetics.biomedcentral.com]
  • The aim of this report is to present a series of five cases of mosaic T18 with emphasis on clinical aspects in order to guide an interdisciplinary adequate medical care and provide timely genetic counseling. Sociedad Argentina de Pediatría.[ncbi.nlm.nih.gov]
Dysostosis
  • A syndrome of intra-uterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med. 1954 ; 47 : 1040 – 1044. 19..[academic.oup.com]
Respiratory Distress
  • Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centile); he had micrognathia, a posterior cleft of palate, abnormal ears and left thumb, syndactyly, and an absent corpus callosum.[ncbi.nlm.nih.gov]
Aspiration
  • Autopsy suggested aspiration as the primary cause of death and confirmed the antemortem findings of an absent corpus callosum and atrial septal defect.[ncbi.nlm.nih.gov]
Fine Motor Coordination Problems
  • motor/coordination problems (3/40); Hypotonia (8/40); Psychomotor retardation; Seisure(5/24); Dandy–Walker malformation; Hypotonia; language delay; Learning difficulty; Moderate degree developmental disability; Hypotonia Hypotonia; Motor development[molecularcytogenetics.biomedcentral.com]

Treatment

  • Treatment - Trisomy 1 mosaicism Not supplied. Resources - Trisomy 1 mosaicism Not supplied.[checkorphan.org]
  • However, there’s no definitive method of treatment and no way to correct the chromosomal abnormality itself.[healthline.com]
  • Last updated: 11/16/2012 Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual.[rarediseases.info.nih.gov]
  • The treatment effect on body composition was less consistent among them.[molecularcytogenetics.biomedcentral.com]
  • There is no specific treatment for trisomy 13. Treatment varies from child to child and depends on the specific symptoms. More than 90% of children with trisomy 13 die in the first year. Complications begin almost immediately.[medlineplus.gov]

Prognosis

  • Diagnosis - Trisomy 1 mosaicism These home medical tests may be relevant to Trisomy 1 mosaicism: * Cold & Flu: Home Testing: Home Fever Tests, Home Ear Infection Tests, Home Flu Tests Prognosis - Trisomy 1 mosaicism Not supplied.[checkorphan.org]
  • But these dedicated parents are determined to make a better prognosis. "Now when you Google, Trisomy 9 Mosaic, up pops these kids that are smiling," says Ms Davies. "They do have disabilities and they do need extra help, but they are thriving."[newshub.co.nz]
  • Mitotic nondisjunction appears to be more frequent, which would explain the mosaicism, lengthy survival and good clinical prognosis of these patients 5 - 8.[colombiamedica.univalle.edu.co]
  • It is important for families to understand the poor prognosis when making decisions about surgical and medical intervention in the neonatal period.[clinicaladvisor.com]
  • Prognosis [ 1 ] Life expectancy is very limited. Median survival is 2.5 days. About 50% live longer than one week. 5-10% of infants live longer than one year. Profound learning disability and developmental delay occur in survivors.[patient.info]

Etiology

  • (Patient-friendly information discussing the clinical features, natural history, and etiology of the condition. Provides other resources and support group information.) (Summary of the clinical features, etiology, and management of the condition.)[clinicaladvisor.com]
  • Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet. 1997 ; 100 : 415 – 419. 21..[academic.oup.com]
  • Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects. Rev Paul Pediatr , 31 , 111-20.[embryology.med.unsw.edu.au]
  • In Etiology and Pathogenesis of Down Syndrome, Wiley-Liss, 1995, p 43-55. Hernandez D and Fisher EMC. Down syndrome genetics: unravelling a multifactorial disorder. Hum. mol. Genet., 5: 1411-1416, 1996. Shapiro, BL.[ds-health.com]
  • 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

  • Epidemiology The prevalence of trisomy 13 is between 1 in 5,000 and 1 in 29,000 live births, and it is the third most common autosomal trisomy in newborns after trisomy 21 and trisomy 18 [ 1 ] .[patient.info]
  • Epidemiology incidence: 1/8000 live births most die in embryonic or fetal life 2nd most common autosomal aberration 2nd most common multiple malformation syndrome age of onset: newborn risk factors: advanced maternal age F M (4:1) History 1960 first recognized[embryology.med.unsw.edu.au]
Sex distribution
Age distribution

Prevention

  • Prevention - Trisomy 1 mosaicism Not supplied.[checkorphan.org]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Can trisomy 18 or trisomy 13 be cured or prevented? There is no cure for trisomy 18 or trisomy 13. We are not certain how to prevent the chromosomal error that causes trisomy 18 and trisomy 13.[stanfordchildrens.org]
  • How can trisomy 18 be prevented? There is no way to prevent the occurrence of trisomy 18. Prenatal screening and diagnosis are available in the general population.[clinicaladvisor.com]
  • 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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