49, XXXXX

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49, XXXXX Classification and external resources
ICD-10	Q97.1
DiseasesDB	32625

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XXXXX syndrome (also called pentasomy X or 49,XXXXX) is the presence of three additional X chromosomes. Diagnosis is done by karyotyping. Approximately 25 females have been described in medical literature worldwide with this extremely rare condition. The condition was first described in 1963.

Effects

Physical traits

XXXXX syndrome is associated with microcephaly (undersized head), micrognathia (undersized jaw), and round face. The ears are generally low-set and malformed. Eyes are upslanting and show palpebral fissures, hypertelorism, and strabismus. Usually the nose is shaped with a broad and depressed nasal bridge and epicanthus, with the mouth having a cleft palate, highly arched palate, dental abnormalities, and thick, furrowed, and everted lips. The neck is webbed, much like the underarms of a woman with Turner's Syndrome. The hands and feet are small with overlapping toes, camptodactyly, clinodactyly, talipes equinovarus, and metatarsus varus. Scoliosis generally affects the spine and hypotonia affects the muscles.

Internal organs

The heart is usually affected by patent ductus arteriosus, atrial septal defect, ventricular septal defect, and aortic dextroposition. There is abnormal lobulation of the lungs and neonatal asphyxia. The ovaries are abnormally shaped with a small uterus and kidney hypoplasia.

Growth and development

XXXXX syndrome causes mental, growth, and motor retardation. There is occasional delayed puberty. Behavior and performance is affected by Opisthotonoid posture. The 'rule of thumb' states that there will be a 10 to 15 IQ point decrease for each extra X chromosome. Thus, the average IQ would be between 55 and 70.^[1].

Notes

References

• Linden MG, Bender BG, Robinson A (1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics 96 (4 Pt 1): 672–82. PMID 7567329.
• www.geneologysorce.com/tetra_x

External links

• Tetrasomy & Pentasomy X Syndrome Information and Support

v • d • e Pathology: chromosome abnormalities (Q90-Q99, 758)
Autosomal trisomies	Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16
Autosomal monosomies/deletions	Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22)
X/Y linked	Monosomy: Turner syndrome (XO) Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY, Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY
Translocations	Philadelphia chromosome, Burkitt's lymphoma
Other	Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis)

v • d • e WikiDoc Research Resources for 49, XXXXX
Articles on 49, XXXXX	Most recent articles on 49, XXXXX • Most cited articles on 49, XXXXX • Review articles on 49, XXXXX • Articles on 49, XXXXX in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on 49, XXXXX	Powerpoint slides on 49, XXXXX • Images of 49, XXXXX • Photos of 49, XXXXX • Podcasts & MP3s on 49, XXXXX • Videos on 49, XXXXX
Evidence Based Medicine Regarding 49, XXXXX	Cochrane Collaboration on 49, XXXXX • Bandolier on 49, XXXXX • TRIP on 49, XXXXX
Cost Effectiveness of 49, XXXXX	Cost Effectiveness of 49, XXXXX
Clinical Trials Involving 49, XXXXX	Ongoing Trials on 49, XXXXX at Clinical Trials.gov • Trial results on 49, XXXXX • Clinical Trials on 49, XXXXX at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding 49, XXXXX	US National Guidelines Clearinghouse on 49, XXXXX • NICE Guidance on 49, XXXXX • NHS PRODIGY Guidance • FDA on 49, XXXXX • CDC on 49, XXXXX
Textbook Information on 49, XXXXX	Books and Textbook Information on 49, XXXXX
Pharmacology Resources on 49, XXXXX	Dosing of 49, XXXXX • Drug interactions with 49, XXXXX • Side effects of 49, XXXXX • Allergic reactions to 49, XXXXX • Overdose information on 49, XXXXX • Carcinogenicity information on 49, XXXXX • 49, XXXXX in pregnancy • Pharmacokinetics of 49, XXXXX •
Genetics, Pharmacogenomics, and Proteinomics of 49, XXXXX	Genetics of 49, XXXXX • Pharmacogenomics of 49, XXXXX • Proteomics of 49, XXXXX
Newstories on 49, XXXXX	49, XXXXX in the news • Be alerted to news on 49, XXXXX • News trends on 49, XXXXX
Commentary on 49, XXXXX	Blogs on 49, XXXXX
Patient Resources on 49, XXXXX	Patient resources on 49, XXXXX • Discussion groups on 49, XXXXX • Patient Handouts on 49, XXXXX • Directions to Hospitals Treating 49, XXXXX • Risk calculators and risk factors for 49, XXXXX
Healthcare Provider Resources on 49, XXXXX	Symptoms of 49, XXXXX • Causes & Risk Factors for 49, XXXXX • Diagnostic studies for 49, XXXXX • Treatment of 49, XXXXX
Continuing Medical Education (CME) Programs on 49, XXXXX	CME Programs on 49, XXXXX
International Resources on 49, XXXXX	49, XXXXX en Espanol • 49, XXXXX en Francais
Business Resources on 49, XXXXX	49, XXXXX in the Marketplace • Patents on 49, XXXXX
Informatics Resources on 49, XXXXX	List of terms related to 49, XXXXX