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Опис
English: Patient aged 3 months (a,b) and 13 years (c,d) with 4p deletion. The patient was born to healthy, unrelated parents. She was born at 40 weeks of gestation with a birth weight of 2500 g, birth length of 46 cm and head circumference of 28.6 cm. Apgar scores were 10/1, 10/5. One older sibling was healthy. She thrived poorly and was found to be generally hypotonic 2 months old. Her development was retarded and she was admitted to hospital several times with infections and febrile convulsions. A chromosome analysis and metabolic screening at the time was normal. She was treated for epilepsy from the age of 2 years. Feeding problems were pronounced, and she was considered to have an autistic disorder. Her development corresponded to approximately 11–15 months at the age of 2 1/2 years. As she grew up she became fond of eating. MRI of the brain at the age of 9 years was normal. Menarche occurred at the age of 11 years. She had well-developed gross motor and some language skills at the age of 15 years. She was referred to subtelomere chromosome analysis at the age of 12 years because of MR, dwarfism with growth corresponding to -3SD (146 cm and 43 kg), hypotonia and dysmorphic features including microcephalia, micrognathia and protrusion of the eyeballs. Patient had deletion of 4pter including the Wolf-Hirschhorn syndrome region. This patient's phenotype was relatively mild and correlated with some patients previously described with similar 4p16.3 microdeletions. Some patients have been designated Pitt syndrome (Pitt-Rogers-Danks syndrome, PRDS), but recently it was argued that Pitt and Wolf-Hirshhorn syndromes represent phenotypic variations of the same microdeletion"
Polski: Pacjentka w wieku trzech miesięcy (góra) i 13 lat (dół) z cechami zespołu Pitta-Rogersa-Danksa i potwierdzoną mikrodelecją 4pter obejmującą region zespołu Wolfa-Hirsschhrona (WHS). Pacjentka urodziła się 23 października 2000 i otrzymała 4 punkty w skali APGAR. Urodziła się w 37. tygodniu ciąży z małą masą urodzeniową. Jej godzina urodzenia to 12:30. Jednak w wyniku obrażeń pacjentka zmarła 13 kwietnia 2013 z powodu silnych drgawek gorączkowych, o godzinie 23:40, w wieku 13 lat.
Датум
Извор Sogaard M, Tümer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Pedersen VF, Baekgaard P, Tommerup N, Cingöz S, Duno M, Brondum-Nielsen K. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet. 6, 21. 2005. doi:10.1186/1471-2350-6-21. PMID 15904506.
Аутор Marie Sogaard et al
Дозвола
(Поновно коришћење ове датотеке)
[1]

Лиценцирање

w:sr:Creative Commons
ауторство
Ова датотека је доступна под лиценцом Creative Commons Ауторство 2.0 Генеричка лиценца.
Дозвољено је:
  • да делите – да умножавате, расподељујете и преносите дело
  • да прерађујете – да прерадите дело
Под следећим условима:
  • ауторство – Морате да дате одговарајуће заслуге, обезбедите везу ка лиценци и назначите да ли су измене направљене. Можете то урадити на било који разуман манир, али не на начин који предлаже да лиценцатор одобрава вас или ваше коришћење.
Personality rights Although this work is freely licensed or in the public domain, the person(s) shown may have rights that legally restrict certain re-uses unless those depicted consent to such uses. In these cases, a model release or other evidence of consent could protect you from infringement claims. Though not obliged to do so, the uploader may be able to help you to obtain such evidence. See our general disclaimer for more information.

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тренутна14:25, 22. јун 2008.Минијатура за верзију на дан 14:25, 22. јун 2008.1.200 × 1.394 (324 kB)Filip em{{Information |Description={{en|1="The patient was born to healthy, unrelated parents. She was born at 40 weeks of gestation with a birth weight of 2500 g, birth length of 46 cm and head circumference of 28.6 cm. Apgar scores were 10/1, 10/5. One older si

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