49, XXXXX

49, XXXXX

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 32625
ICD10 = ICD10|Q|97|1|q|90
ICD9 =
ICDO =
OMIM =
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

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. [ [http://genealogysorce/tetra_x.com] ] .

Notes

References

*
* www.geneologysorce.com/tetra_x

External links

* [http://www.genealogysource.com/tetra_x/ Tetrasomy & Pentasomy X Syndrome Information and Support]


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • XXXXX syndrome — A chromosomal disorder that affects females only, caused by the presence of five X chromosomes rather than the normal two. It is characterized by mild to severe mental retardation in most cases, sometimes by physical abnormalities, facial… …   Medical dictionary

  • XXXXX — chromosome X pentasomy …   Medical dictionary

  • XXXXX — Fehlersignal (TELEX Kurzbezeichnung) …   Acronyms

  • XXXXX — Fehlersignal (TELEX Kurzbezeichnung) …   Acronyms von A bis Z

  • XXXXX — • chromosome X pentasomy …   Dictionary of medical acronyms & abbreviations

  • Sexual XXXXX! — Infobox Album Name = Sexual XXXXX! Type = studio Artist = Buck Tick Released = November 21, 1987 Recorded = Genre = Length = Label = Victor Entertainment Producer = Buck Tick Reviews = Last album = Hurry Up Mode (1987) This album = Sexual XXXXX!… …   Wikipedia

  • Síndrome XXXXX — El síndrome XXXXX (también llamado pentasomía X ó 49, XXXXX) es una alteración cromosómica con la presencia de tres cromosomas X adicionales a los dos presentes en la mujer normalmente. El diagnóstico del síndrome se realiza por cariotipado.… …   Wikipedia Español

  • XXXX, XXXXX — (en genética) designación de una dotación cromosómica sexual anormal en el sexo femenino humano en el cual existen, respectivamente, cuatro o cinco en lugar de los dos cromosomas X normales, de forma que cada célula somática contiene un total de… …   Diccionario médico

  • Bankclearing — Die Bankleitzahl (BLZ) ist in Deutschland und Österreich eine Kennziffer zur eindeutigen Identifizierung eines Kreditinstituts. Die Bankleitzahl besteht in Deutschland immer aus acht Ziffern, in Österreich aus fünf Ziffern. In der Schweiz und in… …   Deutsch Wikipedia

  • Bankenclearing — Die Bankleitzahl (BLZ) ist in Deutschland und Österreich eine Kennziffer zur eindeutigen Identifizierung eines Kreditinstituts. Die Bankleitzahl besteht in Deutschland immer aus acht Ziffern, in Österreich aus fünf Ziffern. In der Schweiz und in… …   Deutsch Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”