1.Genetic analysis of an infant with duplication of 22q12.1-q13.3.
Rui LI ; Ailing WANG ; Jianhong WANG ; Panlai SHI ; Yufei MA ; Xiangdong KONG
Chinese Journal of Medical Genetics 2020;37(5):555-558
OBJECTIVE:
To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate.
METHODS:
The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis.
RESULTS:
The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods.
CONCLUSION
The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.
Abnormalities, Multiple
;
genetics
;
Child
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Chromosome Duplication
;
Chromosomes, Human, Pair 22
;
genetics
;
Cleft Palate
;
genetics
;
DNA Copy Number Variations
;
Genetic Testing
;
Heart Defects, Congenital
;
genetics
;
Humans
;
Infant
;
Karyotyping
2.Propofol terminates ventricular fibrillation storm caused by pulmonary embolism.
Jiang HONG ; Mengdan XU ; Ailing KONG ; Qiang LIU ; Rong CHEN ; Qiuyan DAI ; Lexin WANG ; Baogui SUN
Chinese Medical Journal 2014;127(21):3840-3840