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Malformative syndrome : ウィキペディア英語版 | Malformative syndrome A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics). == Causes ==
* exogenous causes * * exogenous toxic (teratogenetic agents) * * ionizing radiations * * fetal infections (maternofetal infections) * genetic causes (or intrinsic causes) (genetic malformative diseases) * * chromosomal anomalies (chromosomal malformative diseases) * * numerical chromosomal anomalies (e.g. trisomy 13, trisomy 18, trisomy 21) * * structural chromosomal anomalies * * * microdeletions (microdeletion syndromes) * * * chromosomal rearrangements * gene mutations (monogenic malformative diseases) * * Kabuki mask syndrome: MLL2 * * Joubert syndrome, Meckel syndrome and related syndromes: TMEM216 * * cleft lip with and without cleft palate: MAFB and ABCA4 * * Schinzel-Giedion syndrome: SETBP1 * * Fanconi anemia and related disorders: RAD51C * * Noonan syndrome: NRAS * * generalized lymph vessel dysplasia: CCBE1 * * brachydactyly-anonychia: SOX9 * * genetic metabolic diseases * * * Smith-Lemli-Opitz syndrome
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Malformative syndrome」の詳細全文を読む
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