Lesca G, Cournu-Rebeix I, Azoulay-Cayla A, Lyon-Caen O, Barois A, Dulac O, Fontaine B
Fédération de Neurologie, Hôpital de la Salpétrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.
Rev Neurol (Paris). 2001 Oct;157(10):1279-81.
Andermann syndrome or Agenesis of the Corpus Callosum with Polyneuropathy (MIM 218000) is an autosomal recessive disease almost exclusively found in Québec. Only few cases have been reported in other populations. The locus for Andermann syndrome was assigned to chromosome 15q13-q15 in French Canadian families. We performed a haplotype analysis with two markers of this chromosomal region in an Algerian consanguineous family with two affected sibs. The children were homozygous for both markers, suggesting genetic homogeneity in Andermann syndrome.
安德曼综合征或胼胝体发育不全伴多发性神经病(MIM 218000)是一种几乎仅在魁北克发现的常染色体隐性疾病。在其他人群中仅报告了少数病例。在法裔加拿大家庭中,安德曼综合征的基因座被定位于15号染色体q13 - q15区域。我们在一个有两个患病同胞的阿尔及利亚近亲家庭中,对该染色体区域的两个标记进行了单倍型分析。这两个孩子这两个标记均为纯合子,提示安德曼综合征存在基因同质性。