PMID- 31030439
OWN - NLM
STAT- MEDLINE
DCOM- 20190815
LR  - 20190815
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 5
DP  - 2019 May 10
TI  - [Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p 
      and partial trisomy 18q].
PG  - 484-487
LID - 10.3760/cma.j.issn.1003-9406.2019.05.017 [doi]
AB  - OBJECTIVE: To explore the genetic cause for a patient with intellectual 
      disability, short stature and multiple congenital anomalies, and to correlate the 
      result with the clinical phenotype. METHODS: Routine karyotyping analysis was 
      carried out on GTG-banded metaphase chromosomes. Single nucleotide polymorphism 
      (SNP) microarray was used to detect microdeletions or microduplications in the 
      patient. Fluorescence in situ hybridization (FISH) was used to ascertain the 
      origin of aberrant chromosomes. RESULTS: The karyotype of the patient was 
      46,XY,der(18), while both of his parents had a normal karyotype. SNP array 
      identified a 1.23 Mb deletion at 18p11.32-pter (chr18: 136 227-1 370 501, hg19) 
      and a 33.76 Mb duplication at 18q21.1-qter (chr18: 44 250 359-78 013 728, hg19) 
      in the patient. Above finding was confirmed by dual-color FISH with one color for 
      18p and another for 18q. The patient presented with some common features of 18p 
      deletion and 18q duplication including intellectual disability and growth 
      retardation, in addition with some features of 18p deletion including pectus 
      excavatum, short stature and growth hormone (GH) deficiency. The patient showed 
      progressive improvement of stature with GH therapy. Comparison of patients with 
      previously reported dup(18q)+del(18p) recombinations suggested that, even for 
      patients with similar breakpoints, their phenotypes have ranged from normal to 
      severe and there were no consistent findings. CONCLUSION: As aberrations 
      involving double chromosomal segments often result in phenotypic variability, it 
      has been difficult to correlate the genotype of our patient with his phenotype.
FAU - Xiao, Bing
AU  - Xiao B
AD  - Xinhua Hospital, Medical School of Shanghai Jiao Tong University, Shanghai 
      Institute for Pediatric Research, Shanghai 200092, China. Email: 
      qiuwenjuan@xinhuamed.com.cn.
FAU - Ji, Xing
AU  - Ji X
FAU - Ye, Hui
AU  - Ye H
FAU - Liu, Yu
AU  - Liu Y
FAU - Cao, Ying
AU  - Cao Y
FAU - Sun, Yunlong
AU  - Sun Y
FAU - Wei, Wei
AU  - Wei W
FAU - Qiu, Wenjuan
AU  - Qiu W
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
MH  - *Abnormalities, Multiple
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 18
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Monosomy
MH  - Phenotype
MH  - *Trisomy
EDAT- 2019/04/29 06:00
MHDA- 2019/08/16 06:00
CRDT- 2019/04/29 06:00
PHST- 2019/04/29 06:00 [entrez]
PHST- 2019/04/29 06:00 [pubmed]
PHST- 2019/08/16 06:00 [medline]
AID - 940636095 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.05.017 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):484-487. doi: 
      10.3760/cma.j.issn.1003-9406.2019.05.017.