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18p- — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/18p-
License (as archived): CC-BY-SA-4.0
Archived: 2026-10-15T14:40:15.212Z
SHA-256 of the archived text: 3458d943516b3dbb86041db6d875b1269d0ebd8285fa4c9c85525c357a5209e4
Stable URL of this page: https://metraipolis.com/documento/dc_dd20bfe2fbcf

How to cite

18p- — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/18p- (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_dd20bfe2fbcf (Metraipolis archive dc_dd20bfe2fbcf, sha256 3458d943516b3dbb86041db6d875b1269d0ebd8285fa4c9c85525c357a5209e4)

BibTeX

@misc{dcdd20bfe2fbcf,
  title = {18p- — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/18p-},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_dd20bfe2fbcf; sha256 3458d943516b3dbb86041db6d875b1269d0ebd8285fa4c9c85525c357a5209e4},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/18p-. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births. Patients typically have petite frames, a short neck, and a distinctive stance. They may have mild microcephaly, a round, flat, expressionless face, a broad, flat nasal bridge, horizontal palpebral fissures, epicanthal folds, strabismus, and ptosis of the eyelids. The syndrome can lead to muscle hypotonia and a slowdown in activity and movements. Mental impairment is common, with an average intelligence quotient (IQ) ranging from 25 to 75. Holoprosencephaly (HPE) is the primary abnormality, characterized by aberrant development of the midface and forebrain. Severe brain anomalies are linked to facial traits, while milder variants may have minor facial abnormalities. Skeletal abnormalities, such as coxa vara, hip dislocation, scoliosis, and foot deformities, have been documented. Growth hormone (GH) insufficiency is often detected in individuals with short stature, and serum immunoglobulin A levels may be low or absent. Other conditions include alopecia areata, hypotrichosis simplex, and keratosis pilaris and ulerythema ophryogenes. Cytogenetic study is crucial for a definitive diagnosis of 18p deletion syndrome, as phenotype alone cannot support the diagnosis. Typically, peripheral blood karyotype analysis is used, and can also come from trophoblast cells or amniocytes during the perinatal stage. Different syndromes, like Turner syndrome or trisomy 21, may be associated with 18p deletion. Deletion 18p syndrome has no specific treatment but is often treated with speech therapy and physical therapy for hypotonia. Severe brain abnormalities lead to poor prognosis and neonatal death, while patients without severe abnormalities have a better chance of survival. Early rehabilitative and educational interventions are recommended.

Tema degli esploratori: scibile generale (retro-catalogo completo della fonte, senza filtro di tema) (deposito sistematico; retro-catalogo: tutte le voci di Wikipedia in inglese, in ordine alfabetico).
Fonte: Wikipedia in inglese, voce «18p-» — https://en.wikipedia.org/wiki/18p-
Wikidata Q4557543 (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q4557543
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/18p-?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1368087463, consultata il 2026-10-15T14:00:09.928Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: c2b469790b7bf2dd0527a308ef776a93b2929cfd5384552582109b4b3f5f40ad