Edit concept Question Editor Create issue ticket

Trisomy 10p

MR-MCA


Presentation

  • Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented.[ncbi.nlm.nih.gov]
  • Abstract A female infant with multiple congenital anomalies is presented.[ncbi.nlm.nih.gov]
  • Abstract A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.[ncbi.nlm.nih.gov]
  • The present report deals with a mother who is a carrier of a reciprocal translocation between chromosome 22 and 10, which has resulted in two children with a 10p trisomy.[ncbi.nlm.nih.gov]
  • Clinical description In complete trisomy 10p, the anomalies are present at birth.[orpha.net]
Low-Set Posteriorly Rotated Ears
  • Autopsy revealed multiple anomalies including low-set posteriorly rotated ears, cleft of the soft palate, ocular hypertelorism, small upturned nose, agenesis of the gallbladder, sacral hemivertebrae, and abnormal flexion of the thumbs.[osti.gov]

Treatment

  • Management and treatment There is no specific treatment. Early multidisciplinary management and special education is necessary. Prognosis The prognosis is severe. A quarter to a third of patients die in the neonatal period.[orpha.net]
  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.de]
  • 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]
  • A chromosome test of both parents can help determine whether the duplication was inherited, and whether future children have an increased chance to have a chromosome abnormality. [1] Treatment is based on the signs and symptoms present in each person.[rarediseases.info.nih.gov]
  • Preventive care, early diagnosis and treatment in rich and poor countries]. Med Monatsschr (1972) 0.75 [Medulloblastoma and pineoblastoma in monozygous twins (author's transl)].[pubrank.carbocation.com]

Prognosis

  • Prognosis The prognosis is severe. A quarter to a third of patients die in the neonatal period. In other cases the progression is marked by severe intellectual and motor deficiency, and muscular hypotonia and hypotrophia.[orpha.net]
  • Fortschr Med (1975) 0.75 [Prognosis of polyneuritic diseases in childhood]. Med Monatsschr (1972) 0.75 [Treatment of bedwetting children].[pubrank.carbocation.com]
  • The prognosis of trisomy 10p ap-pears to be very poor.The most common aberration resulting in puretrisomy 10p involves translocations of the shortarm of chromosome 10 to the short arm of anacrocentric chromosome (2).[docslide.com.br]
  • We called in a clergyperson for one case who candidly said he’d end the pregnancy, so bleak was the prognosis.[blogs.plos.org]
  • Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. Clin Genet. 2013 Mar 11. doi: 10.1111/cge.12138.[fish.uniklinikum-jena.de]

Etiology

  • The initial chapters discuss surgical anatomy of hernias, incidence and etiology, diagnosis and anaesthesia. The following sections are each dedicated to a different type of hernia and its surgical management.[books.google.de]
  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.de]
  • Etiology The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy.[orpha.net]
  • Hippokrates (1974) 0.75 [Etiology of Down's syndrome (mongolism)]. Hippokrates (1978) 0.75 [Differential diagnosis of intracranial pressure increase in the child]. Med Monatsschr (1973) 0.75 [The abnormality-retardation syndrome].[pubrank.carbocation.com]
  • Surgical and Radiologic Anatomy 34 5763 . ( doi:10.1007/s00276-011-0851-5 ) Search Google Scholar Export Citation 5 Bavinck JNB Weaver DD 1986 Subclavian artery supply disruption sequence hypothesis of a vascular etiology for Poland, Klippel- Feil, and[edmcasereports.com]

Epidemiology

  • Summary Epidemiology Around 50 cases have been described in the literature. Clinical description In complete trisomy 10p, the anomalies are present at birth.[orpha.net]
  • Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down syndrome cytogenetic register and association of clinical cytogeneticists. J Med Genet 1996 ; 33 : 387 -394.[clinchem.aaccjnls.org]
Sex distribution
Age distribution

Pathophysiology

  • We hypothesise that the HK1 located on the chromosome 10 encoding hexokinase-1 is possibly linked to the pathophysiology of CHI. Learning points: Congenital hyperinsulinism (CHI) is known to be associated with various syndromes.[edmcasereports.com]

Prevention

  • Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ Página 332 - Crane JP, LeFevre ML, Winborn RC, et al.[books.google.es]
  • Detection of this aberration in successive pregnancies of carrier members of the family by prenatal FISH could prevent the recurrence of the disease.[scienceopen.com]
  • Hippokrates (1975) 0.75 [Evaluation of neurological and mental functions within the scope of preventive examination of the newborn and infant].[pubrank.carbocation.com]
  • My colleague and I put together an systematic review about PAs in preventative care.[canadianpa.ca]
  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!