1.Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia.
Jianyang LU ; Lei HUAI ; Caijuan LU ; Yafeng WU ; Huiqing ZHU ; Xin ZHAN ; Hongbo ZHAI
Chinese Journal of Medical Genetics 2020;37(11):1217-1221
OBJECTIVE:
To explore strategies of prenatal genetic testing for fetuses featuring abnormal skeletal development.
METHODS:
Clinical data of 17 fetuses with skeletal dysplasia was collected. The results of genetic testing and outcome of pregnancy were analyzed.
RESULTS:
For 12 fetuses, the femur-to-foot length ratio was less than 0.9. Thirteen fetuses had a positive finding by genetic testing. One fetus was diagnosed with chromosomal aneuploidy, three were diagnosed with microdeletion/microduplications, and nine were diagnosed with hereditary bone diseases due to pathological variants of FGFR3, COL1A2, GPX4 or ALPL genes.
CONCLUSION
For fetuses with skeletal dysplasia characterized by short femur, in addition to chromosomal karyotyping and microarray analysis, sequencing of FGFR3 and other bone disease-related genes can improve the diagnostic rate.
Bone Diseases, Developmental/genetics*
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Female
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Fetus/diagnostic imaging*
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Genetic Testing
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Humans
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Karyotyping
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Pregnancy
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Prenatal Diagnosis
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Receptor, Fibroblast Growth Factor, Type 3/genetics*
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Ultrasonography, Prenatal
2.CNV-seq analysis of copy number variations in 217 fetuses with nasal bone dysplasia.
Panlai SHI ; Yaqin HOU ; Duo CHEN ; Ning LIU ; Zhihui JIAO ; Yin FENG ; Gege SUN ; Ruonan ZHU ; Xiangdong KONG
Chinese Journal of Medical Genetics 2022;39(10):1076-1079
OBJECTIVE:
To assess the diagnostic value of copy number variation sequencing (CNV-seq) in the genetic etiology of fetuses with nasal bone dysplasia (NBD).
METHODS:
A total of 217 fetuses discovered with NBD from December 2017 to December 2020 were divided into the isolated NBD group and NBD combined with other anomalies group, for which copy number variations (CNVs) were analyzed.
RESULTS:
A total of 40 fetal abnormalities were detected in 217 cases, with an overall abnormal rate of 18.4%. These included 31 cases with aneuploidies (14.3%, 31/217) and 9 cases with genomic CNVs (4.1%, 9/217). Five cases of trisomy 21 (3.5%, 5/144) and two CNVs cases with unknown clinical significance (1.4%, 2/144) were detected in the isolated group. As for the combined NBD group, 26 aneuploidies (35.6%, 26/73), including 19 cases with trisomy 21, 6 cases with trisomy 18, 1 case with trisomy 13, 5 cases with pathogenic CNVs (6.8%, 5/73), and 2 cases with CNVs of unknown clinical significance (2.7%, 2/73) were detected. A significant difference was detected between the two groups (P < 0.01).
CONCLUSION
The detection rate of CNV-seq is high for chromosomal aneuploidies and pathogenic CNVs in fetuses with NBD, particularly in those combined with other ultrasonic abnormalities.
Aneuploidy
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Bone Diseases, Developmental
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Chromosome Aberrations
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DNA Copy Number Variations
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Down Syndrome/genetics*
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Female
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Fetus/abnormalities*
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Humans
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Pregnancy
;
Prenatal Diagnosis
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Trisomy
3.Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.
Hyung Suk JIN ; Ho young SONG ; Sung Yoon CHO ; Chang Seok KI ; Song Hyun YANG ; Ok Hwa KIM ; Su Jin KIM
Annals of Laboratory Medicine 2017;37(1):92-94
No abstract available.
Bone Diseases, Developmental/diagnosis/drug therapy/*genetics
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Child
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Fibrillin-1/*genetics
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Hand/diagnostic imaging
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Heterozygote
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Human Growth Hormone/therapeutic use
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Humans
;
Limb Deformities, Congenital/diagnosis/drug therapy/*genetics
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Male
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Pelvis/diagnostic imaging
4.A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome.
Ji Hun LIM ; Eul Ju SEO ; Yoo Mi KIM ; Hyun Ju CHO ; Jin Ok LEE ; Chong Kun CHEON ; Han Wook YOO
Annals of Laboratory Medicine 2014;34(5):390-394
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indicated by the electroencephalogram, but he was neither autistic nor had autism spectrum disorders. Using high-resolution oligonucleotide array comparative genomic hybridization, we identified a heterozygous 240-kb deletion at 16q24.3 corresponding to ANKRD11. This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.
Abnormalities, Multiple/diagnosis/*genetics
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Asian Continental Ancestry Group/*genetics
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Bone Diseases, Developmental/diagnosis/*genetics
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Child
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Chromosomes, Human, Pair 16
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Comparative Genomic Hybridization
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Electroencephalography
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Facies
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Gene Deletion
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Heterozygote
;
Humans
;
Intellectual Disability/diagnosis/*genetics
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Male
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Phenotype
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Repressor Proteins/*genetics
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Republic of Korea
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Tooth Abnormalities/diagnosis/*genetics