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X Chromosome Anomaly


Presentation

  • Humans have 46 chromosomes, present as 23 pairs. Twenty-two pairs are found in both sexes (autosomes) and one pair (sex chromosomes) is present as either XY (in males) or XX (in females).[labtestsonline.org]
  • Common female sex chromosome anomaly disorders include Turner syndrome, where only one copy of the X chromosome is present (X0), and multiple X chromosome syndromes, such as triple X syndrome (XXX), XXXX syndrome or XXXXX syndrome.[diseaseinfosearch.org]
  • Numerical disorders Some examples of numerical disorders include: Klinefelter's syndrome Klinefelter’s syndrome occurs in males when one or more extra copies of the X chromosome is present.[news-medical.net]
  • This presents a great challenge in the clinical assessment of phenotypes, in particular when found in prenatal samples.[oncohemakey.com]
  • 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]
Physician
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.com]
  • Learn More I’m a medical professional Conditions resulting from X and Y chromosome variations remain frequently undiagnosed by physicians. Here you will be able to learn more about symptoms and the diagnostic keys to helping this population.[genetic.org]
  • Clinical geneticists can help other physicians manage medical care of children and adults with chromosome abnormalities.[thegeneticscenter.com]
  • Further, with knowledge of whether a child’s disorder is inherited or not, physicians can better counsel parents about the risks of having a second child with autism.[news.harvard.edu]
  • Washington University School of Medicine’s 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children’s hospitals.[source.wustl.edu]
Pain
  • If untreated, those affected walk on the outside of their feet, which can lead to long-term pain and disability.[source.wustl.edu]
  • What you can do: Report any bleeding or abdominal pain to your health care provider. She or he may do an internal exam and an ultrasound to check the baby.[family-friendly-fun.com]
  • Angiokeratomas (skin lesions) over lower trunk, fever, severe burning pain in extremities, cardiovascular and cerebrovascular involvement. Gaucher's Disease Lysosomal Storage Disease Autosomal Recessive.[kumc.edu]
Dry Eyes
  • eyes frequent ear infections scoliosis (spinal curvature) These symptoms can appear early in infancy.[healthline.com]
Neglect
  • Nurture; b ad seeds blossom in bad environments Environment alone cannot explain deranged behaviour as too many abused and neglected children grow up to be law-abiding citizens.[blogs.unimelb.edu.au]

Workup

Nephrolithiasis
  • […] locus 3 FG syndrome 5 Hemophilia B Hypophosphatemic rickets Jensen syndrome Keratosis follicularis spinulosa decalvans Lisch epithelial corneal dystrophy Lujan-Fryns syndrome Megalocornea 1 Mental retardation-skeletal dysplasia Mohr-Tranebjaerg syndrome Nephrolithiasis[news-medical.net]

Treatment

  • Once we've approved your claim, you'll get the private treatment you need. 3 And we’ll pay for treatment After you've been treated, send us your invoices.[aviva.co.uk]
  • Some XXY males can also benefit fromfertility treatment to help them father children. One of the most important factors for all types of treatment is starting it as early in life as possible.[medicinenet.com]
  • But a number of treatments can help: Growth hormone, either alone or with other hormone treatment, may improve growth and will usually increase final adult height — often into the normal range if treatment is started early enough.[kidshealth.org]
  • Standard treatment for milder forms of clubfoot involves gentle manipulation and casting of the feet over several weeks then wearing a brace for several years. Treatment for more severe forms requires surgery.[source.wustl.edu]
  • XYY Syndrome Treatment Since it's impossible to correct every sex chromosome in our bodies, there is no treatment for XYY syndrome.[everydayhealth.com]

Prognosis

  • The wide phenotypic variation and lack of long term follow-up reports in current literature make definitive prognosis for genetic counseling more challenging and problematic.[molecularcytogenetics.biomedcentral.com]

Epidemiology

  • "The emphasis related to the birth of a healthy baby has been weighted towards the health and diet of women, not just during pregnancy, but before," said Brenda Eskenazi, professor of epidemiology and maternal and child health at UC Berkeley's School[berkeley.edu]
Sex distribution
Age distribution

Prevention

  • 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]
  • Read our guide 18 Jun 2018 How to prevent sports injuries Regular exercise has lots of health benefits, so here's how to avoid injuries that keep you from staying active Safer exercise tips 5 Jun 2018 How to keep your teeth healthy Simple rules to take[aviva.co.uk]
  • There is no way to prevent Turner syndrome, and the cause of the genetic abnormality is unknown.[healthline.com]
  • In early miscarriage, chromosomal errors can prevent a fetus from developing normally. When this happens, the immune system will often respond by spontaneously terminating the pregnancy.[verywell.com]
  • Those with the disorder can range in mental ability from severely challenged to gifted, according to the Centers for Disease Control and Prevention (CDC).[news.harvard.edu]

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