title: A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.
abstract: De novo partial distal 1q trisomy is uncommon and mostly occurs in combination with monosomy of another chromosome due to a parental translocation. Distal 1q trisomy co-occurring with another de novo duplication on a separate chromosome is extremely rare. Here, we reported a patient carrying two large de novo interstitial duplications including a 20Mb duplication at 1q42-q44 and a 14.2Mb duplication at 9q21.12-q21.33. The patient presented with features of pre- and postnatal growth retardation, low birth weight, failure to thrive, developmental delay and frequent infection. Her dysmorphic features included macrocephaly, prominent forehead, triangular face, wide fontanelle, hypertelorism, flat nasal bridge, tented mouth, micrognathia, protruding and low-set ears, slender limbs with toe-walking appearance. In addition, she presented with subdural hematoma. The clinical presentations of this patient are mostly consistent with those of distal 1q trisomy syndrome or 9q interstitial duplication. The interstitial 1q trisomy may have contributed to the macrocephaly, prominent forehead and limb abnormalities of our patient. Either or both de novo duplications could have contributed to the features of growth retardation, developmental delay and dysmorphic features including hypertelorism, low-set ears and abnormal nose/nasal bridge.
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Jin
authors: J
authors: Wang
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Chunyun
authors: C
authors: Fu
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Shujie
authors: S
authors: Zhang
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Jingsi
authors: J
authors: Luo
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Luping
authors: L
authors: Ouyang
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Bobo
authors: B
authors: Xie
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Weijia
authors: W
authors: Sun
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Sheng
authors: S
authors: He
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Jiasun
authors: J
authors: Su
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Xuyun
authors: X
authors: Hu
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Dongmei
authors: D
authors: Fei
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Rongyu
authors: R
authors: Chen
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Xin
authors: X
authors: Fan
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China.
authors: Shan
authors: S
authors: Ou
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China. Electronic address: chenshaoke123@163.com.
authors: Shaoke
authors: S
authors: Chen
authors: Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China; Department of Laboratory Medicine, Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Claritas Genomics, Cambridge, MA 02139, United States. Electronic address: Yiping.Shen@childrens.harvard.edu.
authors: Yiping
authors: Y
authors: Shen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005183:Failure to Thrive / Q000235:genetics*; D005260:Female; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D014314:Trisomy / Q000235:genetics*
keywords: 1q42-q44; 9q21.12-q21.33; Chromosome microarray analysis; De novo; Duplication; Trisomy 1q syndrome