Samuelsson Lena, Zagoras Theofanis, Hafström Maria
Department of Clinical Genetics, Sahlgrenska University Hospital, Sweden.
Department of Pediatrics, Institute of Clinical Sciences, The Queen Silvia Children's Hospital, University of Gothenburg, Göteborg, Sweden; Department of Paediatrics, St. Olavs Hospital, Norway; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.
Eur J Med Genet. 2015 Feb;58(2):111-5. doi: 10.1016/j.ejmg.2014.12.006. Epub 2014 Dec 16.
Deletions including chromosome 15q24 have been delineated in recent years as a separate syndrome with phenotypic variability. Here we report a familial 15q24 deletion and further contribute to the phenotypic description of this syndrome.
Molecular karyotyping and description of the phenotype of three patients in the same family with a 15q24 deletion.
Parental transmission of the 15q24 deletion syndrome is described in the same family. The affected, the father and his twin offspring, all exhibit the typical facial features, signs and symptoms consistent with the syndromic phenotype. A distinct phenotypic variability is nevertheless noted although they all share the same deletion.
These three patients are to our knowledge the first described cases of 15q24 syndrome in the same family. Urogenital malformations have previously been described as a part of this syndrome. Our adult male patient exhibits no such malformations but has a documented reduced fertility. This fact points to other factors such as haploinsufficiency of one and/or further genes on 15q24 as being responsible for the infertility. Array analysis could be considered as a first hand analysis in the investigation of cases of infertility and intellectual deficiency in adults in analogy to the existing consensus regarding cases of intellectual deficiency in children.
近年来，包括15q24染色体缺失在内的缺失已被划定为一种具有表型变异性的独立综合征。在此，我们报告一例家族性15q24缺失，并进一步补充该综合征的表型描述。
对同一家庭中三名患有15q24缺失的患者进行分子核型分析并描述其表型。
同一家庭中描述了15q24缺失综合征的亲代遗传情况。受影响的父亲及其双胞胎后代均表现出与该综合征表型一致的典型面部特征、体征和症状。尽管他们都有相同的缺失，但仍注意到明显的表型变异性。
据我们所知，这三名患者是同一家庭中首例被描述的15q24综合征病例。泌尿生殖系统畸形此前已被描述为该综合征的一部分。我们的成年男性患者未表现出此类畸形，但有记录显示其生育能力下降。这一事实表明，15q24上一个和/或其他基因的单倍剂量不足等其他因素是导致不育的原因。类似于现有关于儿童智力缺陷病例的共识，阵列分析可被视为对成人不育和智力缺陷病例进行调查的首要分析方法。
