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48,XXXY Syndrome

49,XXXXY Syndrome


Presentation

  • Abstract 49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation.[unboundmedicine.com]
  • Treatment depends on the symptoms present in each individual and is best managed by a team of specialists, including cardiologists, orthopedists, speech therapists, neurologists, and endocrinologists. Life expectancy is generally normal ... 2 ...[familydiagnosis.com]
  • Case presentation Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia[paperity.org]
  • Features a downloadable Online Image Collection that you can use to enhance your presentations. Presents two brand-new chapters covering urinary cytology and fine needle aspiration to keep you up to date.[books.google.es]
Cerebral Palsy
  • palsy Child Neurology childhood chlorpromazine clinical conditions associated coordination cytomegalic inclusion disease deafness defects deficiency deterioration diagnosis disease disorders Down’s syndrome drugs dwarfism electroencephalogram encephalitis[books.google.com]
Hyperextensible Joints
  • Bendy (hyperextensible) joints and flat feet are common. The parents of a son with 48,XXXY almost always have normal chromosomes in their body’s cells, so they are not routinely tested.[gagesstory48syndrome.weebly.com]
  • joints, and underdeveloped genitalia with hypergonadotropic hypogonadism [Visootsak et al., 2007].[karger.com]
Short Attention Span
  • Boys and men with 48,XXXY syndrome tend to have anxiety, a short attention span, and impaired social skills. 48,XXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills[ghr.nlm.nih.gov]
Phenylketonuria
  • […] handicap mental handicap including Mental Retardation mentally handicapped children microcephaly movements mucopolysaccharidoses muscles nervous system Neurol Neurology normal occur ofmental ofthe parents Partial trisomy Pediatr person phenothiazines phenylketonuria[books.google.com]

Workup

  • During a workup for delayed development, genotyping revealed 48, XXYY with CGG repeat sequence unremarkable for Fragile X syndrome. At seven years old his full scale IQ was 70 with verbal IQ of 80 and performance IQ of 65 as measured by WISC-III.[childhood-developmental-disorders.imedpub.com]

Treatment

  • More Symptoms of 48,XXXY syndrome » Treatments: 48,XXXY syndrome Treatment : There is no cure for 48, XXXY syndrome .[familydiagnosis.com]
  • Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments.[unboundmedicine.com]
  • Future research should focus on genotype–phenotype relationships and the development of evidence-based treatments.[ingentaconnect.com]
  • References Please input treatment information here.[pediascape.org]

Prognosis

  • What is the outlook (prognosis) for Klinefelter's syndrome? Sometimes boys with KS may struggle through adolescence. They may have difficulties at school, many frustrations and, occasionally, may have serious emotional or behavioural difficulties.[patient.info]
  • Prognosis While many men with Klinefelter syndrome live normal lives, nearly 100 percent of these men will be sterile (unable to produce a child).[healthofchildren.com]
  • […] skills) are a significant area of weakness, necessitating community-based supports for almost all individuals in adulthood. [1] Additional treatment recommendations based on the individual strengths and weaknesses in XXYY syndrome may be required. [5] Prognosis[en.wikipedia.org]
  • Prognosis While many men with Klinefelter syndrome go on to live normal lives, nearly 100% of these men will be sterile (unable to produce a child).[medical-dictionary.thefreedictionary.com]

Etiology

  • Synonyms Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here.[pediascape.org]
  • Klinefelter’s syndrome (KS) was first described by Harry Klinefelter in 1942 as an endocrine disorder of unknown etiology.[gpnotebook.co.uk]
  • Successive meiotic nondisjuctional events during spermatogenesis, resulting in a XYY sperm have been attributed as the most probable etiological mechanism of 48, XXYY syndrome.[jcd.org.in]
  • Etiology • Meiotic nondisjunction of chromosome pairs during the first or second division of gametogenesis • Mitotic nondisjunction on the developing zygote • It’s a random event during the formation of reproductive cells 6.[slideshare.net]

Epidemiology

  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.com]
  • Epidemiology• This syndrome, evenly spread in all ethnic groups, has a prevalence of1-2 subjects every 1000 males in the general population• 3.1 % of infertile males have Klinefelter syndrome• The prevalence of the syndrome has increased over the past[slideshare.net]
  • To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation.[academic.oup.com]
  • This chapter reviews various aspects of Klinefelter syndrome, including epidemiology, cytogenetics, molecular genetics, clinical manifestations, and management.[glowm.com]
  • Epidemiology XXY aneuploidy is the most common disorder of sex chromosomes in humans, with a prevalence of one in 500 males [ 3 ].[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology this not been elucidated but could be attributed to estrogen testosterone imbalance [4]. Type II diabetes is seen in about 18% of patients with KS 48, XXYY.[symbiosisonlinepublishing.com]
  • XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, XXY, and the most current research does not suggest that there should[en.wikipedia.org]

Prevention

  • During cell division , an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form.[ghr.nlm.nih.gov]
  • This is because the extra X chromosomes usually lead to small testicles and a testosterone deficiency that delays or prevents full pubertal development.[childrenscolorado.org]
  • With testosterone treatment from the age of 11 it is possible that development of mamma tissue can be reduced or prevented.[klinefelters.org]
  • Prevention Klinefelter syndrome usually is not inherited but occurs during fetal development, so there is no means of preventing the disease.[healthofchildren.com]
  • How can this disease be prevented? There is no way to prevent the occurrence of Klinefelter syndrome.[clinicaladvisor.com]

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