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Distal Trisomy 6q


Presentation

  • The authors present the case of a child with partial trisomy of the long arm of chromosome 6 who was observed aged between 1 and 5 months and 5 years and 5 months.[moh-it.pure.elsevier.com]
  • The supernumerary No. 13 chromosome was present in only one fourth of blood lymphocyte and one third of skin fibroblast mitoses; her clinical picture has little… CONTINUE READING Figures, Tables, and Topics from this paper.[semanticscholar.org]
  • We stress the need of further detail presentation of dental problems in trisomy 22, because it is still a very rare event in medical publications.[czytelniamedyczna.pl]
  • Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.[rarediseases.org]
  • Genital abnormalities may also be present. In affected females, there may be underdevelopment of the skin folds surrounding the vaginal opening (hypoplastic labia).[rarediseases.org]
Swelling
  • Renal malformations associated with chromosome 10, distal trisomy 10q may include underdevelopment of the kidneys (hypoplasia); development of cysts (cystic kidneys); and/or abnormal swelling (distention) of and accumulation of urine in the kidneys (hydronephrosis[rarediseases.org]
Respiratory Abnormalities
  • Approximately half of infants with chromosome 10, distal trisomy 10q may have defects of the heart that are present at birth (congenital heart defects), respiratory abnormalities, and/or malformations of the kidneys.[rarediseases.org]

Treatment

  • (E) First phase of treatment with bonded expansion appliance. (F) Patient after the first phase of treatment. Fig. 4.[czytelniamedyczna.pl]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Standard Therapies Treatment The treatment of Chromosome 10, Distal Trisomy 10q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • Standard Therapies Treatment The treatment of Chromosome 6, Partial Trisomy 6q is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]

Prognosis

  • Dental abnormalities due to different chromosomal trisomies are rarely described because of a poor lifespan prognosis.[czytelniamedyczna.pl]

Prevention

  • Physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections.[rarediseases.org]

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