No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with ade novo16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis spanning similar to 2.2 Mb and encompassing 38 genes. The patient showed mild-to-moderate intellectual disability, speech delay and mild dysmorphic features. In DECIPHER, we found six individuals carrying a "pure" overlapping microduplication. Although available data are very limited, genomic and phenotype comparison of our and previously annotated patients suggested a potential clinical relevance for 16q24.2q24.3 microduplication with a variable and not (yet) recognizable phenotype predominantly affecting cognition. Comparing the cytogenomic data of available individuals allowed us to delineate the smallest region of overlap involving 14 genes. Accordingly, we propose ANKRD11,CDH15, and CTU2 as candidate genes for explaining the related neurodevelopmental manifestations shared by these patients. To the best of our knowledge, this is the first time that a clinical and molecular comparison among patients with overlapping 16q24.2q24.3 microduplication has been done. This study broadens our knowledge of the phenotypic consequences of 16q24.2q24.3 microduplication, providing supporting evidence of an emerging syndrome.
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Guangzhou Kingmed Ctr Clin Lab Co Ltd, Guangzhou 510330, Guangdong, Peoples R China
Guangzhou Med Univ, KingMed Sch Lab Med, Guangzhou 510330, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Yuan, Haiming
Meng, Zhe
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Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Meng, Zhe
Zhang, Lina
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Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Zhang, Lina
Luo, Xiangyang
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Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Luo, Xiangyang
Liu, Liping
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Wuhan Women & Children Med Healthcare Ctr, Dept Obstet & Gynecol, Wuhan 430016, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Liu, Liping
Chen, Mengfan
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Guangzhou Kingmed Ctr Clin Lab Co Ltd, Guangzhou 510330, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Chen, Mengfan
Li, Xinwei
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Guangzhou Kingmed Ctr Clin Lab Co Ltd, Guangzhou 510330, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Li, Xinwei
Zhao, Weiwei
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Guangzhou Kingmed Ctr Clin Lab Co Ltd, Guangzhou 510330, Guangdong, Peoples R China
Guangzhou Med Univ, KingMed Sch Lab Med, Guangzhou 510330, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
Zhao, Weiwei
Liang, Liyang
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Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R ChinaSun Yat Sen Univ, Sun Yat Sen Mem Hosp, Guangzhou 510120, Guangdong, Peoples R China
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Erzurum Reg Training & Res Hosp, Dept Med Genet, TR-25070 Erzurnum, TurkeyErzurum Reg Training & Res Hosp, Dept Med Genet, TR-25070 Erzurnum, Turkey
Turkyilmaz, A.
Yarali, O.
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Erzurum Reg Training & Res Hosp, Dept Med Genet, TR-25070 Erzurnum, TurkeyErzurum Reg Training & Res Hosp, Dept Med Genet, TR-25070 Erzurnum, Turkey
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Bengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R ChinaBengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R China
Wang, Chunjing
Ren, Huanhuan
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Bengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R ChinaBengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R China
Ren, Huanhuan
Dong, Huaifu
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Bengbu Med Coll, Dept Paediat, Affiliated Hosp 1, 2600 Donghai Ave, Bengbu, Anhui, Peoples R ChinaBengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R China
Dong, Huaifu
Liang, Meng
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Bengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R ChinaBengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R China
Liang, Meng
Wu, Qi
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Bengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R ChinaBengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R China
Wu, Qi
Liao, Yaping
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Bengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R ChinaBengbu Med Coll, Dept Life Sci, 2600 Donghai Ave, Bengbu 233030, Anhui, Peoples R China