PMID- 35598268
OWN - NLM
STAT- MEDLINE
DCOM- 20220524
LR  - 20220524
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 39
IP  - 5
DP  - 2022 May 10
TI  - [Clinical genetic analysis of an infant with 1q21.3-qter duplication and 
      Xpter-p11 deletion caused by maternal balanced chromosomal translocation].
PG  - 514-517
LID - 10.3760/cma.j.cn511374-20210918-00761 [doi]
AB  - OBJECTIVE: To investigate the clinical phenotype and genetic diagnosis of an 
      infant featuring multiple hair and hyperbilirubinemia. METHODS: Conventional 
      G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in 
      situ hybridization (FISH) for the patient were conducted, G-banding analyses of 
      peripheral blood for the infant's parents were also performed. RESULTS: We 
      investigated an infant who carries a unbalanced, maternally inherited karyotype 
      46, X, der (X) t (X;1) (p11.22; q21.3) in which CMA and FISH analyses disclosed a 
      1q21.3q44 duplication of 93.03 Mb and Xp22.33p11.22 deletion of 54.53 Mb. 
      CONCLUSION: The phenotypes of this infant can probably be attributed to the 
      1q21.3q44 duplication and Xp22.33p11.22 deletion, which were maternally 
      inherited.
FAU - Lin, Lin
AU  - Lin L
AD  - Institute of Genetics, Linyi People's Hospital, Linyi, Shandong 276000, China. 
      lilinxy1996@sina.com.
FAU - Zhao, Chen
AU  - Zhao C
FAU - Lv, Yanchun
AU  - Lv Y
FAU - Zhao, Xiangyu
AU  - Zhao X
FAU - Li, Lin
AU  - Li L
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - *Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Translocation, Genetic
EDAT- 2022/05/23 06:00
MHDA- 2022/05/25 06:00
CRDT- 2022/05/22 14:00
PHST- 2022/05/22 14:00 [entrez]
PHST- 2022/05/23 06:00 [pubmed]
PHST- 2022/05/25 06:00 [medline]
AID - 940639101 [pii]
AID - 10.3760/cma.j.cn511374-20210918-00761 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 May 10;39(5):514-517. doi: 
      10.3760/cma.j.cn511374-20210918-00761.