PMID- 32219843
OWN - NLM
STAT- MEDLINE
DCOM- 20200402
LR  - 20200402
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 4
DP  - 2020 Apr 10
TI  - [Analysis of a female with a peripheral blood lymphocytic karyotype of trisomy 18 
      but normal intelligence].
PG  - 483-485
LID - 10.3760/cma.j.issn.1003-9406.2020.04.030 [doi]
AB  - OBJECTIVE: To explore the genetic basis for a female with a peripheral lymphocyte 
      karyotype of trisomy 18 but normal intelligence. METHODS: G-banding karyotype 
      analysis, fluorescence in situ hybridization (FISH) and single nucleotide 
      polymorphism microarray (SNP array) were employed to analyze the peripheral blood 
      sample and buccal cells from the patient. RESULTS: Chromosomal karyotyping, SNP 
      array and FISH analysis of the patient's peripheral blood all suggested 
      47,XX,+18. Interphase FISH analysis of buccal cells, however, revealed presence 
      of 45,X and low percentage of trisomy 18 and monosomy 18. CONCLUSION: The 
      clinical manifestation of germ layer chromosomal mosaicism is complex. The impact 
      of the genetic disorder on the individual will depend on the structure and 
      function derived from the affected germ layer.
FAU - Gao, Jian
AU  - Gao J
AD  - Center for Reproduction and Genetics, Hebei General Hospital, Shijiazhuang, Hebei 
      050051, China. gaojian8703@163.com.
FAU - Yu, Xiaoping
AU  - Yu X
FAU - Rong, Limin
AU  - Rong L
FAU - Mei, Bing
AU  - Mei B
LA  - chi
PT  - Case Reports
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  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intelligence
MH  - Karyotype
MH  - *Karyotyping
MH  - Lymphocytes
MH  - Mosaicism
MH  - Mouth Mucosa
MH  - Polymorphism, Single Nucleotide
MH  - Trisomy 18 Syndrome/*genetics
EDAT- 2020/03/29 06:00
MHDA- 2020/04/03 06:00
CRDT- 2020/03/29 06:00
PHST- 2020/03/29 06:00 [entrez]
PHST- 2020/03/29 06:00 [pubmed]
PHST- 2020/04/03 06:00 [medline]
AID - 940637098 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2020.04.030 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):483-485. doi: 
      10.3760/cma.j.issn.1003-9406.2020.04.030.