Skrlec Ivana, Wagner Jasenka, Puseljić Silvija, Heffer Marija, Stipoljev Feodora
Coll Antropol. 2014 Jun;38(2):759-62.
Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific associated monosomy. Clinical findings of our patient were compatible with those previously reported in dup4q and del2p patients. Herein are presented the clinical and cytogenetic findings in a 4-year-old female with an unbalanced karyotype 46,XX,der(2)t(2;4)(p25.1;q31.3)pat. Clinical phenotypes of 2p;4q translocation cases are variable, because the involved breakpoints vary case-by-case. We also compare similarity of the clinical features of our proband and other patients carrying either duplication of the distal part of 4q and patients carrying a deletion of distal part of 2p as described in the literature. To our knowledge, this is the first case of partial trisomy 4q accompanied with partial monosomy 2p.
节段性非整倍体患者的临床特征通常因所涉及染色体片段的大小而异。2p单体通常作为平衡相互易位携带者先证者中更复杂综合征的一部分被观察到。dup4q综合征患者具有可变的临床特征，这既与4q重复片段的大小有关，也与特定相关单体有关。我们患者的临床发现与先前报道的dup4q和del2p患者的发现相符。本文介绍了一名4岁女性患者的临床和细胞遗传学发现，其核型为不平衡的46,XX,der(2)t(2;4)(p25.1;q31.3)pat。2p;4q易位病例的临床表型各不相同，因为所涉及的断点因病例而异。我们还比较了我们先证者与文献中描述的其他携带4q远端重复或2p远端缺失的患者临床特征的相似性。据我们所知，这是首例伴有2p部分单体的4q部分三体病例。
