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首页> 外文期刊>American journal of medical genetics, Part A >Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.
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Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.

机译：亚端粒分析检测到两个有明显症状的亲戚的家族10p; 12p重排。

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In recent years, subtelomeric rearrangements have been identified as a major cause of multiple congenital anomalies (MCA)/mental retardation (MR) syndromes. Currently, more than 2,500 individuals with MR have been tested and subtelomeric rearrangements were detected in about 6%. Therefore, subtelomeric FISH analysis is indicated as a second tier test after high-resolution G-banding analysis, in subjects with otherwise unexplained developmental delay/MR and/or MCA. We describe a female patient and her maternal aunt, both showing a distinct phenotype, associated with the same complex subtelomeric rearrangement. Subtelomeric FISH testing performed between 1 year 9 months and 20 years after the initial karyotype showed, in both patients, distal trisomy 12p and distal monosomy 10p as follows: 46,XX.ish der(10)t(10;12)(p15.3;p13.31). Parental subtelomeric FISH analysis showed the proposita's mother (sister of Patient 2) and grandmother (mother to Patient 2), to have a balanced 10p:12p translocation. Both girls showed a similar phenotype with pre/postnatal growth retardation, moderate-to-severe developmental delay/MR, very poor/absent speech, hypotonia, lax ligaments, and a distinct pattern of malformation. On examination there were blepharophimosis; bilateral ptosis/epicanthus; broad, depressed nasal bridge with a beaked nose; short philtrum; low-set, posteriorly rotated, overfolded ears; micrognathia; mild webbing of the neck; mild broadening of thumbs; puffy hands/feet; long hallux; and sacral/coccygeal dimples. A slow overall improvement was seen in both patients over time. To our knowledge, a complex subtle rearrangement as the one seen in our patients has not been reported thus far. Our patients show features of partial 10p deletion syndrome rather than those of partial duplication 12p, confirming the general rule that deletions are more phenotypically penetrant than duplications.
机译：近年来，亚端粒重排已被确定为多发性先天性异常（MCA）/智力低下（MR）综合征的主要原因。目前，已经对2500多名MR患者进行了测试，发现约6％的亚端粒重排。因此，在患有无法解释的发育延迟/ MR和/或MCA的受试者中，亚端粒FISH分析被认为是高分辨率G带分析之后的第二层测试。我们描述了一位女性患者和她的母亲姨妈，他们都表现出独特的表型，并且与相同的复杂亚端粒重排有关。在最初的核型分析后的1年9个月至20年之间进行的亚端粒FISH测试显示，这两名患者的远端三体性12p和远端单性10p如下：46，XX.ish der（10）t（10; 12）（p15）。 3; p13.31）。父母的端粒下FISH分析显示，该性子的母亲（患者2的姐姐）和祖母（患者2的妈妈）具有平衡的10p：12p易位。两个女孩均表现出相似的表型，包括出生前/产后发育迟缓，中度至重度发育迟缓/ MR，非常差/缺乏言语，肌张力低下，韧带松弛以及畸形的明显特征。经检查发现有睑缘病。双侧上睑下垂/棘突;鼻梁宽，凹陷，鼻尖;短字低位，向后旋转，耳朵过度折叠;小念珠菌颈部轻度织带;拇指轻度扩张;浮肿的手/脚;长拇指和/尾骨酒窝。随着时间的推移，这两名患者的总体改善缓慢。据我们所知，到目前为止，尚未见到在患者中见到的复杂的微妙的重排。我们的患者表现出部分10p缺失综合征的特征，而不是部分重复12p的特征，这证实了一般规则：缺失比表型更具表型渗透性。

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