参考
- The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia.
- Gonzalez CH, Durkin-Stamm MV, Geimer NF, Shahidi NT, Schilling RF, Rubira F, Opitz JM.AbstractWe report 2 families with an autosomal dominant syndrome of limb and hematologic abnormalities. The W Family was ascertained through AW, a 13-year-old girl, who was purportedly born without congenital anomalies and who was normal until 11 1/2 years when she developed acute lymphoblastic leukemia. She died 2 years later with CNS involvement. Her chromosomes, studied in the first weeks after diagnosis of the disease, were apparently normal. Her father had clinodactyly of both 5th fingers and was found to have panmyelocytopenia refractory to all treatment at 26 years. He died within a year of the onset of his anemia. This man's oldest brother was born with congenital malformations of the elbows and the hands and was healthy until 38 years when he was also found to have an "idopathic anemia" and panmyelocytopenia which was refractory to treatment except for transfusions; he died at age 42 years. Both men were initially thought to have the Fanconi anemia syndrome. Their mother died at 71 years of leukemia. DT, the propositus of the second family, was noted to have malformations of both hands at birth. At 21 months he had anemia for which he received transfusions. Family history reveals that several people on the paternal side have severe hand anomalies and a history of childhood anemia. The paternal grandfather died at age 51 of acute monocytic leukemia. Barring genetic heterogeneity, we think that the trait in the W and T families in the same. It is a pleiotropic autosomal dominant mutant which affects radial and ulnar development of the upper limbs and is associated with a relatively high risk of transient or permanent bone marrow arrest with or without leukemia. We propose the hypothesis that apparently increased risk of leukemia to Fanconi heterozygotes actually represents admixture with the WT syndrome and that Fanconi heterozygotes may not have an increased risk of leukemia.
- Birth defects original article series.Birth Defects Orig Artic Ser.1977;13(3B):31-8.
- We report 2 families with an autosomal dominant syndrome of limb and hematologic abnormalities. The W Family was ascertained through AW, a 13-year-old girl, who was purportedly born without congenital anomalies and who was normal until 11 1/2 years when she developed acute lymphoblastic leukemia. Sh
- PMID 890097
WordNet
- the 23rd letter of the Roman alphabet (同)w, double-u
PrepTutorEJDIC
- Watt / West; Western
- wolfram(=tungsten)の原子記号
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| 関連記事 | 「症候群」「W」「WT」「群」「症候」 |
「症候群」
- 英
- syndrome, symptom-complex
- 同
- 症状群
- 関
- [[]]
- 成因や病理学的所見からではなく、複数の症候の組み合わせによって診断される診断名あるいは疾患。
内分泌
先天的代謝異常
- レッシュ・ナイハン症候群 レッシュ-ナイハン症候群 Lesch-Nyhan症候群：HGPRTの欠損により尿酸が蓄積するX染色体連鎖劣性遺伝疾患であり、痙性麻痺、不随意運動、知的障害、自傷行為が見られる。(QB.D-233)
高プロラクチン血症
- 分娩後の視床下部障害によるプロラクチン分泌抑制因子の分泌抑制のため、高プロラクチン血症を呈する。
- 分娩に関係なくプロラクチン分泌抑制因子の分泌抑制をきたし、高プロラクチン血症を呈する。
性腺機能低下
- 嗅覚の低下・脱出、低ゴナドトロピン性性腺機能低下症
- Bardet-Biedl症候群 バルデー・ビードル症候群 バルデ-ビードル症候群
- Laurence-Moon-Bardet-Biedl症候群 ローレンス-ムーン-バルデ-ビードル症候群
- Laurence-Moon-Biedl症候群 ローレンス・ムーン・ビードル症候群
- 肥満、網膜色素変性症、知能低下、低ゴナドトロピン性性器発育不全、多指症、低身長
性早熟
- 思春期早発症、多発性線維性骨異形成症、皮膚色素沈着
- Sheehan症候群 シーハン症候群：汎下垂体機能低下症。
- 女性型の肥満、性器の発育障害の2主徴を示し、視床下部に器質的障害をもつ疾患群。
脳神経外科・神経内科
- Wallenberg症候群 ワレンベルグ症候群：椎骨動脈、後下小脳動脈の血栓塞栓症などで生じる。頚部より下位で温度覚の障害が健側に出現するのに対し、頚部より上位では障害側に温度覚の障害が出現する。
「W」
「WT」
「群」
「症候」
- 英
- symptom and sign
- 関
- 症状, 徴候 兆候