Symptoma

Female with more than three X Chromosomes

Penta X

Cardiovascular malformations may also be present. External genitalia are generally normal but gonadal dysfunction has been reported. [orpha.net]

We present the case of a pentasomy X (49,XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. [ncbi.nlm.nih.gov]

A genetic disorder of females who present in infancy with patent ductus arteriosus, mental and growth retardation, upward slanting of eyes, carpal hypoplasia, and clinodactyly of the 5th finger XXXXX syndrome 49, XXXXX, penta-X syndrome A presenting in [medical-dictionary.thefreedictionary.com]

A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. [scholars.opb.msu.edu]

  • Marfanoid Habitus

    A recent physical examination showed a X inactivation, the theoretically expected five equal classes mentally retarded young adult, with poor language develof cells with one active X chromosome and four inactive X opment, marfanoid habitus and disproportionate [youscribe.com]

    A recent physical examination showed a mentally retarded young adult, with poor language development, marfanoid habitus and disproportionate upper/lower body segments (Figure 1 ); her profile was very flat; with ocular hypertelorism, upslanting palpebral [doi.org]

  • Delayed Speech Development

    The characteristic phenotype associated with a 49,XXXXX karyotype is more severe than in X trisomies and tetrasomies [ 25, 31 ], including severe mental retardation with delayed speech development, short stature, coarse facial features, osseous and articular [doi.org]

  • Pleural Effusion

    Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]

  • Hyperlaxity

    1/19 [ ] Congenital Heart Disease 9/20 [ ] upward slanting palpebral fissures 8/19 [ ] Skeletal Anomalies hypertelorism 2/6 [ ] proximal radioulnar synostosis 2/6 [ ] ear anomalies 11/20 [ ] hand arachnodactyly 1/6 [ ] depressed nasal bridge 1/6 [ ] hyperlaxity [ncbi.nlm.nih.gov]

  • Cranial Asymmetry

    She had microcephaly but no cranial asymmetry, and normal pinnae with some posterior rotation of the right. An epicanthic fold was indicated on the right; the nasal bridge was broad, but there was no hyper- telorism. [documents.tips]

  • Brachydactyly

    Case report: We present a 28 month old female patient with short stature, brachycephaly, characteristic facies, with female external genitalia, hypoplasic labia majora, brachydactyly, bilateral clinodactyly of the fifth finger, dislocation of the right [scielo.org.co]

  • Osteopenia

    Osteopenia Pentasomy X syndrome Premature ovarian failure Tetrasomy X syndrome Pediatrics, Perinatology, and Child Health Cite this Apa Standard Harvard Vancouver BIBTEX RIS Wood, A, Kleis, L, Toriello, H & Cemeroglu, AP 2011, ' Mosaic pentasomy X/tetrasomy [scholars.opb.msu.edu]

  • Esotropia

    Cranial nerve function was intact except for ptosis and an intermittent esotropia. Optic fundi were normal. Dermatoglyphics: Two arches, three ulnar and one radial loop, four whorls on fingertips, and distally positioned axial palmar triradii (t"). [documents.tips]

  • Pleural Effusion

    Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] developmental delay [1] [2] Complications Congenital heart disease [3] Causes 5 X chromosomes [2] Risk factors Older parents [2] Diagnostic method Chromosomal analysis [2] Differential diagnosis Down syndrome, triple X syndrome, tetrasomy X, Turner syndrome [2] Treatment [en.wikipedia.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Standard Therapies Treatment The treatment of Penta X Syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

The patients with pentasomy X syndrome have a poor prognosis due to severe cardiac failure and infectious diseases [ 2, 9 – 12 ]. [ncbi.nlm.nih.gov]

Etiology Pentasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. [orpha.net]

Each chapter includes the etiology of each disorder (including genetics), its prevalence, clinical presentation, assessment considerations, and evidence-based treatments. [books.google.com]

Summary Epidemiology The prevalence is unknown but less than 40 cases have been described in the literature so far. [orpha.net]

Geophagia syndrome] 1988 Oct [A comparative epidemiologic study of chronic juvenile arthritis in the western section of Paris and Brittany (1982)] [Epidemiology, over an 8 year period, of attempted suicides in children, seen in emergency service] 1972 [database.pherobase.com]

More @ themedicalnotes.com Download Image Klinefelter Syndrome Practice Essentials Pathophysiology... More @ medscapestatic.com Download Image Cabin Fever Indoor Winter Outings for Kids Niagara Mommy... [auto-kfz.info]

In: Towards the prevention of fetal malformation, J. B. Scrimgeour (ed.), pp. 49–65. Edinburgh: University Press 1978 Google Scholar Brody, J., Fitzgerald, M. G., Spiers, A. S. D.: A female child with five X chromosomes. J. [link.springer.com]

Currently, 49,XXXXX Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

A study of the efficacy of oral salbutamol in the long-term delay of labour and its place in the prevention of R.D.S. is con- tinuing. Saint Mary’s Maternity Hospital, G. HASTWELL Portsmouth PO3 6AD. [kundoc.com]

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]

Images