- 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 chromosome s. Diagnosis is done bykaryotyping . 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 showpalpebral fissures ,hypertelorism , andstrabismus . Usually the nose is shaped with a broad and depressed nasal bridge andepicanthus , 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 withTurner's Syndrome . The hands and feet are small with overlapping toes,camptodactyly ,clinodactyly ,talipes equinovarus , and metatarsus varus.Scoliosis generally affects the spine andhypotonia 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. Theovaries 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_xExternal links
* [http://www.genealogysource.com/tetra_x/ Tetrasomy & Pentasomy X Syndrome Information and Support]
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См. также в других словарях:
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
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