1.Clinical features and genetic analysis of two cases with 16p13.3 microdeletion and 19q13.4 microduplication derived from familial cryptic balanced translocation.
Huihui XU ; Xing JI ; Lin NI ; Yue ZHU ; Yingwei CHEN ; Bing XIAO
Chinese Journal of Medical Genetics 2016;33(4):490-493
OBJECTIVETo determine the genetic cause for two mentally retarded patients from a family, and to correlate their genotypes with clinical phenotypes.
METHODSRoutine G-banded karyotyping analysis was performed. Single nucleotide polymorphism (SNP) microarray analysis was used to detect microdeletions or microduplications. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of chromosomal abnormalities.
RESULTSBoth proband and his uncle showed a normal karyotype. SNP microarray analysis has identified a 1.147-Mb microdeletion at 16p13.3 (85 880-1 233 819) and a 2.948-Mb microduplication at 19q13.42-q13.43 (56 008 597-58 956 816). FISH analysis confirmed that the patient has inherited a derivative chromosome 16 from his father. The proband presented with mental retardation, reduced speech, and facial dysmorphism (hypertelorism, down-slanting palpebral fissure, low nasal bridge and wide gap between front teeth). His uncle presented with a milder phenotype with mental retardation.
CONCLUSIONBoth the proband and his uncle have carried a chromosome microdeletion at 16p and microduplication at 19q, which were originated from their fathers carrying a balanced t(16;19) translocation. Combined SNP microarray analysis and FISH assay are useful for the detection the copy number variations and delineation of potential structural changes, which may help with evaluation of recurrence risk for this family.
Adult ; Child ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 19 ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Translocation, Genetic
2.Effect of ultrasonic coupling agent-soft rubber bag padding method on DWI image quality of testis
Jinhua HAO ; Xiaoying SUN ; Tao WANG ; Huihui DENG ; Yue LING ; Xiaohua ZHAO
Chinese Journal of Medical Imaging Technology 2018;34(6):929-933
Objective To explore an auxiliary method to improve DWI image quality of testis.Methods Thirty healthy male volunteers were selected,and EPI-DWI and FSE-T2WI scanning with the same parameters were successively performed according to three different schemes.Scheme A:Padding ultrasonic coupling agent-soft rubber bag at the scanning position.Scheme B:Padding physiological saline-soft rubber bag at the scanning position.Scheme C:No preexamination treatment at the scanning position.FSE-T2WI (the same scheme and the same slice) was used as the reference of anatomic form,and the images were conducted by two attending doctors.The image geometric distortion,signal uniformity and anatomical clarity were scored by 5 points method.SNR and CNR of were calculated by one of the two doctors.The scoring consistency between the two doctors was evaluated.The scoring of image geometric distortion,signal uniformity,anatomic clarity,SNR and CNR of the three schemes were statistically analyzed.Results The scoring consistency of image geometrical distortion,signal uniformity and anatomical clarity of the three schemes were relatively good or better between the two doctors (Kappa=0.805,0.737 and 0.713).There were significant differences of image geometrical distortion,signal uniformity and anatomical clarity scoring obtained from three schemes (comparisons between groups and overall comparison,all P＜ 0.05),superiority:Scheme A＞ Scheme B＞ Scheme C.Conclusion Ultrasonic coupling agent-soft rubber bag padding method can significantly improve DWI imaging quality of testis.
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