順位 (類似度) |
PMID (PMCID) |
|
---|---|---|
1 (39.0%) |
22303803 |
A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26). Akbas E, Polat S, Karakas-Celik S, Altintas ZM, Yildirim M, Yilgor E. Genet Couns. 2011;22(4):417-23. |
三角頭蓋 | ||
CHP1 PTGES3 TMED3 | ||
トリソミー ヒト ヒト10番染色体 ヒト22番染色体 ヒト9番染色体 対立遺伝子 幼児 染色体切断 染色体検査 染色体欠失 男 発達障害 知的障害 頭蓋縫合早期癒合症 | ||
2 (4.0%) |
23985162 (3765975) |
Acquired del(9)(p22.3) in a primary plasma cell leukemia. Achkar WA, Wafa A, Aljapawe A, Othman MA, Alhourani E, Liehr T. Mol Cytogenet. 2013;6(1):33. |
肝脾腫 | ||
2 (4.0%) |
15481033 |
Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. Ounap K, Uibo O, Zordania R, Kiho L, Ilus T, Oiglane-Shlik E, Bartsch O. Am J Med Genet A. 2004;130A(4):415-23. |
真性半陰陽 | ||
CHP1 DMRT1 DMRT2 PTGES3 TMED2 | ||
DNA結合タンパク質 ヒト ヒト9番染色体 ヒトX染色体 ヒトY染色体 モノソミー 女 子供 思春期 性分化異常 性染色体異常 成長障害 染色体欠失 |
合計: 27
HPO ID | 徴候・症状 | 頻度 |
---|---|---|
HP:0000243 | 三角頭蓋 | Very frequent (99-80%) |
HP:0000316 | 両眼隔離 | Very frequent (99-80%) |
HP:0000368 | 低位の後方回転した耳介 | Very frequent (99-80%) |
HP:0000431 | 幅広い鼻梁 | Very frequent (99-80%) |
HP:0000470 | 短い頸部 | Very frequent (99-80%) |
HP:0000520 | 眼球突出 | Very frequent (99-80%) |
HP:0000582 | 眼瞼裂斜上 | Very frequent (99-80%) |
HP:0001249 | 知的障害 | Very frequent (99-80%) |
HP:0001252 | 筋緊張低下 | Very frequent (99-80%) |
HP:0001263 | 全般性発達遅滞 | Very frequent (99-80%) |
HP:0002705 | 高狭口蓋 | Very frequent (99-80%) |
HP:0003196 | 短い鼻 | Very frequent (99-80%) |
HP:0008551 | 小耳 | Very frequent (99-80%) |
HP:0009738 | 対耳輪の異常 | Very frequent (99-80%) |
HP:0011800 | 顔面中部後退 | Very frequent (99-80%) |
HP:0000047 | 尿道下裂 | Frequent (79-30%) |
HP:0000059 | 大陰唇低形成 | Frequent (79-30%) |
HP:0000164 | 歯の異常 | Frequent (79-30%) |
HP:0000286 | 内眼角贅皮 | Frequent (79-30%) |
HP:0001156 | 短指症候群 | Frequent (79-30%) |
HP:0006610 | 幅広い乳頭間距離 | Frequent (79-30%) |
HP:0009906 | 耳朶無形成/低形成 | Frequent (79-30%) |
HP:0011039 | 外耳輪の異常 | Frequent (79-30%) |
HP:0100625 | 胸郭拡大 | Frequent (79-30%) |
HP:0100790 | ヘルニア | Frequent (79-30%) |
HP:0000175 | 口蓋裂 | Occasional (29-5%) |
HP:0002564 | 心および大血管奇形 | Occasional (29-5%) |
合計: 0
HPO ID | 徴候・症状 | 症例報告数 |
---|
合計: 0
Gene Symbol | 遺伝子名 | Entrez Gene ID |
---|