Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi M G, Mazzei A, Neri G, Andria G, Brahe C
Dipartimento di Pediatria, Università Federico II, Naples, Italy.
Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R.
We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to the trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS.
我们报告了一例因家族性易位（4；21）（p16.3；q22.1）不平衡分离导致的非整倍体综合征，该易位造成了部分4p单体和部分21q三体。三名患病儿童均出现严重的生长发育迟缓、身材矮小、小头畸形、严重肌张力减退和智力发育迟缓。这三名儿童的面部特征非常相似，表现为前额突出、睑裂向上倾斜、鼻子短和耳朵深陷，整体外观类似唐氏综合征。分子研究确定了4p和21q上的非整倍体片段。发现唐氏综合征关键区域的大部分位于三体部分，而候选的沃尔夫-赫希霍恩综合征关键区域只有一部分被删除，这表明该区域对于沃尔夫-赫希霍恩综合征的主要畸形特征并不关键。
