We reported a patient carrying two large de novo interstitial duplications including a 20 Mb duplication at 1q42-q44 and a 14.2 Mb duplication at 9q21.12-q21.33. This type of case is quite rare.
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We summarized the clinical characteristics of patients with distal 1q trisomy and patients with 9q21 duplication respectively.
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We compared the phenotypes of distal 1q trisomy and 9q21 duplication.
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We concluded that the distal 1q trisomy may have contributed to the features of macrocephaly, prominent forehead and limb abnormalities of our patient.
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Either the distal 1q trisomy or the 9q21 duplication or both could have contributed to our patient’s clinical presentation of growth retardation, developmental delay and dysmorphic features including hypertelorism, low-set ears and abnormal nose/nasal bridge.
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