Syndrome, 4p-

Syndrome, 4p-
The 4p- syndrome or Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears with a dimple in front of the ear; small &/or asymmetrical head; heart defects; and seizures (that tends to diminish with age). There is severe to profound developmental and mental retardation. Some patients do learn to walk with or without support and some achieve sphincter control (by day). There is usually very slow progress in development. Most (nearly 90% of the cases of the syndrome are due to de novo (newly occurring) partial deletions of the short (p) arm of chromosome 4. In the remaining 10% or so of cases, one of the parents has a balanced chromosome rearrangement involving chromosome 4p from which the child's 4p- is derived. Parents of 4p- children should therefore have chromsomes studies themselves. The syndrome is named for the American Kurt Hirschhorn and German U. Wolf who independently found the 4p- chromosome abnormality in the 1960s.

Medical dictionary. 2011.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Syndrôme — Syndrome Pour les articles homonymes, voir syndrome (homonymie). Un syndrome est un ensemble de signes cliniques et de symptômes qu un patient est susceptible de présenter lors de certaines maladies, ou bien dans des circonstances cliniques d… …   Wikipédia en Français

  • syndrome — [ sɛ̃drom ] n. m. • 1824; n. f. de 1547 à 1872; gr. sundromê « réunion », par le lat. ♦ Méd. Association de plusieurs symptômes, signes ou anomalies constituant une entité clinique reconnaissable, soit par l uniformité de l association des… …   Encyclopédie Universelle

  • Syndrome 4p — Syndrome de Wolf Hirschhorn Le syndrome de Wolf Hirschhorn est une maladie chromosomique associant : faciès caractéristique, retard de croissance intra utérin suivi d’un retard de croissance post natal, hypotonie musculaire, retard de… …   Wikipédia en Français

  • syndrome — pronounced sin drohm, is originally a medical term for ‘a set of symptoms’. Its use as a vogue word in general contexts meaning ‘a characteristic combination of opinions, emotions, behaviour, etc.’, is as recent as the 1950s; it is generally… …   Modern English usage

  • syndrome X — eks n 1) angina pectoris of a usu. benign form in which the coronary arteriogram is normal 2) metabolic syndrome * * * 1. cardiac s. X. 2. metabolic s …   Medical dictionary

  • syndrome — a number of symptoms occurring together, 1540s, from Mod.L., from Gk. syndrome concurrence of symptoms, concourse, from syndromos, lit. running together, from syn with + dromos running, course (see DROMEDARY (Cf. dromedary)). Psychological sense… …   Etymology dictionary

  • syndrome — [sin′drōm΄] n. [ModL < Gr syndromē < syn , with + dramein, to run: see DROMEDARY] 1. a number of symptoms occurring together and characterizing a specific disease or condition 2. any set of characteristics regarded as identifying a certain… …   English World dictionary

  • Syndrome — Syn dro*me, n. [NL., from Gr. ?; sy n with + ? a course, a running.] 1. Concurrence. [R.] Glanvill. [1913 Webster] 2. (Med.) A group of symptoms occurring together that are characteristic and indicative of some underlying cause, such as a disease …   The Collaborative International Dictionary of English

  • syndrome — syndrome. См. синдром. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Syndrŏme — (gr.), 1) das Zusammenwirken mehrer Umstände; 2) die Häufung vieler Krankheitsfälle …   Pierer's Universal-Lexikon

  • Syndrome — Syndrome, griech., das Zusammenwirken mehrer Ursachen; Häufung der Krankheitsfälle …   Herders Conversations-Lexikon

Share the article and excerpts

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