BACKGROUND The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abnormalities, thymic hypoplasia, characteristic face, hypocalcemia, cognitive delay, palatal defects, velopharyngeal insufficiency, and other malformations, the microduplication syndrome is largely undetected. This is mainly because phenotypic appearance is variable, milder, less characteristic and unpredictable. In this paper, we report the clinical evaluation and follow-up of two patients affected by 22q11.2 rearrangements, emphasizing new phenotypic features associated with duplication and triplication of this genomic region. CASE PRESENTATION Patient 1 is a 24 year-old female with 22q11.2 duplication who has a heart defect (ostium secundum atrial septal defect) and supernumerary teeth (hyperdontia), a feature previously not reported in patients with 22q11.2 microduplication syndrome. Her monozygotic twin sister, who died at the age of one month, had a different heart defect (truncus arteriousus). Patient 2 is a 20 year-old female with a 22q11.2 triplication who had a father with 22q11.2 duplication. In comparison to the first case reported in the literature, she has an aggravated phenotype characterized by heart defects (restrictive VSD and membranous subaortic stenosis), and presented other facial dysmorphisms and urogenital malformations (ovarian cyst). Additionally, she has a hemangioma planum on the right side of her face, a feature of Sturge-Weber syndrome. CONCLUSIONS In this report, we described hyperdontia as a new feature of 22q11.2 microdeletion syndrome. Moreover, this syndrome was diagnosed in a patient who had a deceased monozygotic twin affected with a different heart defect, which corresponds to a phenotypic discordance never reported in the literature. Case 2 is the second clinical report of 22q11.2 triplication and presents an aggravated phenotype in contrast to the patient previously reported.

中文翻译：

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具有罕见的22q11.2区域三重复和22q11.2微复制综合征的新临床见解的患者中的独特表型：两例报告。

背景技术已知22q11.2染色体区域的重排，最常见的是缺失和重复，是造成多种先天性异常的原因。这些重排涉及具有某些表型相似性的综合症。虽然22q11.2缺失（也称为DiGeorge / Velocardiofacial综合征）具有一些共同特征，包括心脏异常，胸腺发育不全，特征性面部，血钙过低，认知迟缓，pa骨缺损，咽喉功能不全和其他畸形，但微复制综合征在很大程度上未被发现。这主要是因为表型外观可变，较温和，特征较少且不可预测。在本文中，我们报告了两名受22q11.2重排影响的患者的临床评估和随访，强调与该基因组区域的重复和重复相关的新表型特征。病例介绍患者1是一名24岁女性，具有22q11.2重复，患有心脏缺陷（仲孔房间隔缺损）和多余的牙齿（齿状畸形），以前在22q11.2微复制综合征患者中未报道过此特征。她的单卵双胞胎姐姐在一个月大时去世，死于另一种心脏缺陷（干run）。病人2是一位20岁的女性，具有22q11.2的三倍重复，其父亲具有22q11.2的重复。与文献中报道的第一例相比，她的表型加剧，表现为心脏缺陷（限制性VSD和膜性主动脉瓣狭窄），并表现出其他面部畸形和泌尿生殖器畸形（卵巢囊肿）。此外，她的脸右侧有扁平血管瘤，这是Sturge-Weber综合征的特征。结论在本报告中，我们将牙髓过高描述为22q11.2微缺失综合征的新特征。此外，这种综合征是在已死亡的单卵双胞胎患有不同的心脏缺陷的患者中诊断出来的，这与文献中从未报道过的表型失调相对应。病例2是22q11.2重复的第二次临床报告，与先前报道的患者相比，表现出加重的表型。该综合征是在已死亡的单卵双胞胎患有不同的心脏缺陷的患者中诊断出来的，这与文献中从未报道过的表型失调相对应。病例2是22q11.2重复的第二次临床报告，与先前报道的患者相比表现出加重的表型。该综合征是在已死亡的单卵双胞胎患有不同的心脏缺陷的患者中诊断出来的，这与文献中从未报道过的表型失调相对应。病例2是22q11.2重复的第二次临床报告，与先前报道的患者相比表现出加重的表型。