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XXXXY syndrome

March 10, 2023

49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males.[1][2][3] This syndrome is the result of maternal non-disjunction during both meiosis I and II.[4] It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher.[2]

49,XXXXY syndrome
SpecialtyMedical genetics 

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.[5]

Reproductive

Those with 49,XXXXY syndrome tend to exhibit infantile secondary sex characteristics with sterility in adulthood.[5]

Physical

Males with 49,XXXXY tend to have numerous skeletal anomalies. These skeletal anomalies include:[citation needed]

The effects also include:

Cognitive and developmental

Much like Down syndrome, the mental effects of 49,XXXXY syndrome vary. Impaired speech and maladaptive behavioral problems are typical.[6] 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.[6]

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).[7] Individuals with this syndrome are typically mosaic, being 49,XXXXY/48, XXXX.[4]

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.[5]

Diagnosis

49,XXXXY can be clinically diagnosed through karyotyping.[8] Facial dysmorphia and other somatic abnormalities may be reason to have the genetic testing done.[4]

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.[4] 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.[4]

See also

References

  1. ^ Visootsak J, Graham JM (2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet J Rare Dis. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
  2. ^ a b Fraccaro, M.; Kaijser, K.; Lindsten, J. (1960-10-22). "A child with 49 chromosomes". Lancet. 2 (7156): 899–902. doi:10.1016/s0140-6736(60)91963-2. ISSN 0140-6736. PMID 13701146.
  3. ^ Etemadi, Katayoon; Basir, Behnaz; Ghahremani, Safieh (March 2015). "Neonatal diagnosis of 49, XXXXY syndrome". Iranian Journal of Reproductive Medicine. 13 (3): 181–184. ISSN 1680-6433. PMC 4426158. PMID 26000009.
  4. ^ a b c d e Hadipour, Fatemeh; Shafeghati, Yousef; Bagherizadeh, Eiman; Behjati, Farkhondeh; Hadipour, Zahra (2013). "Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family". Acta Medica Iranica. 51 (12): 907–909. ISSN 1735-9694. PMID 24442548.
  5. ^ a b c d e Webspawner.com article on 49,XXXXY syndrome 2008-09-14 at the Wayback Machine. Retrieved 26 March 2008.
  6. ^ a b Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM (June 2007). "Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY". Am. J. Med. Genet. A. 143A (11): 1198–203. doi:10.1002/ajmg.a.31746. PMID 17497714. S2CID 25732790.
  7. ^ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders. p. 179. ISBN 0-7216-0187-1.
  8. ^ Blumenthal, Jonathan D.; Baker, Eva H.; Lee, Nancy Raitano; Wade, Benjamin; Clasen, Liv S.; Lenroot, Rhoshel K.; Giedd, Jay N. (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.

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

March 10, 2023
xxxxy, syndrome, extremely, rare, aneuploidic, chromosomal, abnormality, occurs, approximately, males, this, syndrome, result, maternal, disjunction, during, both, meiosis, first, diagnosed, 1960, coined, fraccaro, syndrome, after, researcher, specialtymedical. 49 XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality It occurs in approximately 1 out of 85 000 to 100 000 males 1 2 3 This syndrome is the result of maternal non disjunction during both meiosis I and II 4 It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher 2 49 XXXXY syndromeSpecialtyMedical genetics Contents 1 Signs and symptoms 1 1 Reproductive 1 2 Physical 1 3 Cognitive and developmental 2 Pathophysiology 3 Diagnosis 4 Treatment 5 See also 6 References 7 Further reading 8 External linksSigns and symptoms EditThe 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 5 Reproductive Edit Those with 49 XXXXY syndrome tend to exhibit infantile secondary sex characteristics with sterility in adulthood 5 Hypoplastic genitalia 5 Physical Edit Males with 49 XXXXY tend to have numerous skeletal anomalies These skeletal anomalies include citation needed Genu valgum Pes cavus Fifth finger clinodactylyThe effects also include Cleft palate Club feet Respiratory conditions Short or and broad neck Low birth weight Hyperextensible joints Short stature Narrow shoulders Coarse features in older age Hypertelorism Epicanthal folds Prognathism Gynecomastia rare Muscular hypotonia Cryptorchidism Congenital heart defects A very round face in infancy 5 Cognitive and developmental Edit Much like Down syndrome the mental effects of 49 XXXXY syndrome vary Impaired speech and maladaptive behavioral problems are typical 6 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 6 Pathophysiology EditAs 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 7 Individuals with this syndrome are typically mosaic being 49 XXXXY 48 XXXX 4 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 5 Diagnosis Edit49 XXXXY can be clinically diagnosed through karyotyping 8 Facial dysmorphia and other somatic abnormalities may be reason to have the genetic testing done 4 Treatment EditWhile 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 4 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 4 See also EditAneuploidy Turner syndrome Klinefelter syndrome 49 XXXXX a similar syndrome that affects femalesReferences Edit Visootsak J Graham JM 2006 Klinefelter syndrome and other sex chromosomal aneuploidies Orphanet J Rare Dis 1 42 doi 10 1186 1750 1172 1 42 PMC 1634840 PMID 17062147 a b Fraccaro M Kaijser K Lindsten J 1960 10 22 A child with 49 chromosomes Lancet 2 7156 899 902 doi 10 1016 s0140 6736 60 91963 2 ISSN 0140 6736 PMID 13701146 Etemadi Katayoon Basir Behnaz Ghahremani Safieh March 2015 Neonatal diagnosis of 49 XXXXY syndrome Iranian Journal of Reproductive Medicine 13 3 181 184 ISSN 1680 6433 PMC 4426158 PMID 26000009 a b c d e Hadipour Fatemeh Shafeghati Yousef Bagherizadeh Eiman Behjati Farkhondeh Hadipour Zahra 2013 Fraccaro syndrome report of two Iranian cases an infant and an adult in a family Acta Medica Iranica 51 12 907 909 ISSN 1735 9694 PMID 24442548 a b c d e Webspawner com article on 49 XXXXY syndrome Archived 2008 09 14 at the Wayback Machine Retrieved 26 March 2008 a b Visootsak J Rosner B Dykens E Tartaglia N Graham JM June 2007 Behavioral phenotype of sex chromosome aneuploidies 48 XXYY 48 XXXY and 49 XXXXY Am J Med Genet A 143A 11 1198 203 doi 10 1002 ajmg a 31746 PMID 17497714 S2CID 25732790 Cotran Ramzi S Kumar Vinay Fausto Nelson Nelso Fausto Robbins Stanley L Abbas Abul K 2005 Robbins and Cotran pathologic basis of disease St Louis Mo Elsevier Saunders p 179 ISBN 0 7216 0187 1 Blumenthal Jonathan D Baker Eva H Lee Nancy Raitano Wade Benjamin Clasen Liv S Lenroot Rhoshel K Giedd Jay N 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 Further reading EditJonathan 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 Edit49 XXXXY at the National Organization of Rare Diseases Retrieved from https en wikipedia org w index php title XXXXY syndrome amp oldid 1120473136, wikipedia, wiki, book, books, library,

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