Andrea K Robbins Popular Books

Andrea K Robbins Biography & Facts

49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome is the result of maternal non-disjunction during both meiosis I and II. It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher. Signs and symptoms The symptoms of 49,XXXXY are slightly similar to those of Klinefelter syndrome and 48,XXXY, but they are usually much more severe. Aneuploidy is often fatal, but there is "X-inactivation", where the effect of the additional gene dosage due to the presence of extra X chromosomes is greatly reduced. Reproductive Those with 49,XXXXY syndrome tend to exhibit infantile secondary sex characteristics with sterility in adulthood. Hypoplastic genitalia Absent or delayed pubertyPhysical Males with 49,XXXXY tend to have numerous skeletal anomalies. These skeletal anomalies include: Genu valgum Pes cavus Fifth finger clinodactylyThe effects also include: 49,XXXXY may also be associated with increased rates of primary immunodeficiency. Cognitive and developmental Much like Down syndrome, the mental effects of 49,XXXXY syndrome vary. Impaired speech and maladaptive behavioral problems are typical. One study looked at males that were diagnosed with 48,XXYY, 48,XXXY and 49,XXXXY. They found that males with 48,XXXY and 49,XXXXY function at a much lower cognitive level than males their age. These males also tend to exhibit more immature behavior for their chronological age; increased aggressive tendencies were also cited in this study.A 2020 study found that boys with 49,XXXXY have heightened rates of internalizing behavior and anxiety, beginning as early as preschool. Tests using the Social Responsiveness Scale-2 (SRS-2) found that while those with the condition generally showed more signs of social impairment, there was minimal effect on their social awareness. Pathophysiology As its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes on the 23rd pair, thus having forty-nine chromosomes rather than the normal forty-six. As with most categories of aneuploidy disorders, 49,XXXXY syndrome is often accompanied by intellectual disability. It can be considered a form or variant of Klinefelter syndrome (47,XXY). Individuals with this syndrome are typically mosaic, being 49,XXXXY/48, XXXX.It is genetic but not hereditary, meaning that while the genes of the parents cause the syndrome, there is a small chance of more than one child having the syndrome. The probability of inheriting the disease is about one percent. Diagnosis 49,XXXXY can be clinically diagnosed through karyotyping. Facial dysmorphia and other somatic abnormalities may be reason to have the genetic testing done. Treatment While there is no treatment to correct the genetic abnormality of this syndrome, there is the potential to treat the symptoms. As a result of infertility, one man from Iran used artificial reproductive methods. An infant in Iran diagnosed with 49,XXXXY syndrome was born with patent ductus arteriosus, which was corrected with surgery, and other complications that were managed with replacement therapy.The administration of testosterone therapy has been shown to improve motor skills, speech, and nonverbal IQ in males with 49,XXXXY. See also Aneuploidy Turner syndrome Klinefelter syndrome 49, XXXXX, a similar syndrome that affects femalesReferences Further reading Jonathan D. Blumenthal; Eva H. Baker; Nancy Raitano Lee; Benjamin Wade; Liv S. Clasen; Rhoshel K. Lenroot; Jay N. Giedd (2013). "Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study". NeuroImage: Clinical. 2: 197–203. doi:10.1016/j.nicl.2013.01.003. PMC 3649771. PMID 23667827.External links 49 XXXXY at the National Organization of Rare Diseases. Discover the Andrea K Robbins popular books. Find the top 100 most popular Andrea K Robbins books.

Best Seller Andrea K Robbins Books of 2024

  • Face the Music synopsis, comments

    Face the Music

    Andrea K. Robbins

    After losing her mother in a tragic accident, Allison Banks takes on the sole responsibility of caring for her little sister, her young niece, and her disabled grandmother. When he...

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    Arrowheads, Inc.

    Sammy Powell

    "Arrowheads, Inc." is the third book in the Fox Tree Chronicles series that follows Sissy and Little John Polk on their quest to learn the secret behind their magic arrowheads...

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    Vityaz

    Jake Baratka

    Things will never be the same. In a timeline not so different from our own, the tensions between East and West have begun to tear at the seams of peace. Damage will be done that wi...

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    The Fox Tree

    Sammy Powell

    What happens when two suburban kids make a strange discovery in the woods behind their house? Will it change their lives forever? Their search for the answer begins as they sit und...

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    Personal Accountability and POWER

    Tom Esch

    Strong safety culture is built upon great communication. Great communicators take full responsibility for their words and actions, even when they fail, and use their power to ...

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    Finding Joy in Leadership

    Dr. Ray R. Phillips

    Let's face it: leadership is hard work. Leaders are frequently expected to create visions that will inspire creativity and ingenuity within their organizations while at the same ti...

  • The People Profit Connection 4th Edition synopsis, comments

    The People Profit Connection 4th Edition

    G. Brent Darnell

    The construction industry is at a crossroads. It is truly the best of times and the worst of times. Although we are gravitating more collaborative project delivery method...

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    Still With Us

    Lena M.Q. Heilmann

    Lena Heilmann lost her sister, Danielle, to suicide in 2012. Experiencing the enormous weight of grief, she reached out to other sibling suicide loss survivors to find comfort...

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    Deadly Division

    Nathaniel Sizemore

    David Stoneman was a rising star at one of Washington, D.C.'s most prestigious law firms until the firm's conniving managing partner, Gregory Thomas III, abruptly derailed his plan...