trisomy 4p

4pトリソミー

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• 1. 症候群をきたす免疫不全症 syndromic immunodeficiencies
• 2. First-trimester combined test and integrated tests for screening for Down syndrome and trisomy 18
• 3. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
• 4. 胎児異数性に関連する超音波所見 sonographic findings associated with fetal aneuploidy
• 5. 新生児における小水疱性および膿疱性の病変 vesiculobullous and pustular lesions in the newborn

English Journal

• Diaphragm myoclonus followed by generalised atonia in a patient with trisomy 4p: unusual semiology in an unusual condition.

• Varley J1, Wehner T1, Sisodiya S1.
• Epileptic disorders : international epilepsy journal with videotape.Epileptic Disord.2015 Dec 1;17(4):473-7. doi: 10.1684/epd.2015.0787.
• In this report, we describe a female patient with trisomy 4p, a rare genetic condition, with unusual seizure semiology. The patient is one of the oldest reported survivors with this condition. This semiology was noted while she was being monitored by inpatient video telemetry. We observed a series o
• PMID 26620821

• A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

• Iype T1, Alakbarzade V2,3, Iype M4, Singh R5, Sreekantan-Nair A6, Chioza BA7, Mohapatra TM8, Baple EL9,10,11, Patton MA6,12, Warner TT13, Proukakis C14, Kulkarni A15, Crosby AH16.
• BMC medical genetics.BMC Med Genet.2015 Nov 10;16:104. doi: 10.1186/s12881-015-0251-5.
• BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a
• PMID 26554554

• Pica in a Four-Year-Old Girl with Global Developmental Delay.

• Liu YH1, Pesch MH, Lumeng JC, Stein MT.
• Journal of developmental and behavioral pediatrics : JDBP.J Dev Behav Pediatr.2015 Nov-Dec;36(9):758-60. doi: 10.1097/DBP.0000000000000228.
• CASE: Emily is a 4 and half-year-old girl whose foster mother is concerned about her odd eating behaviors. Emily has been with her foster mother for 1 year after exposure to domestic violence. Emily's habit of eating nonfood items led to her foster mother providing "100% supervision." Emily constant
• PMID 26468937

Japanese Journal

• Partial monosomy Xq(Xq23→qter) and trisomy 4p(4p15.33→pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features

• BARTOCCI Arnaldo,STRIANO Pasquale,MANCARDI Maria Margherita,FICHERA Marco,CASTIGLIA Lucia,GALESI Ornella,MICHELUCCI Roberto,ELIA Maurizio
• Brain & development 30(6), 425-429, 2008-06-01
• NAID 10025577235

• Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA-producing cells in lymphoid tissue

• SAIGA Tatsuyoshi,HASHIMOTO Kazuhiro,KIMURA Nobusuke,ONO Hisako,HIAI Hiroshi
• Pathology international 57(1), 37-42, 2007-01-01
• NAID 10020105405

• 4Pトリソミー症候群に併発した小児膿疱性乾癬の1例

• 山崎 正視,佐久間 正寛,海野 公成,矢口 均,小川 秀興
• 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 14(1), 21-24, 1995-05-15
• NAID 10009420993

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