The frequency of genetic disease among in-patients of Pediatric department, Seoul National University Hospital during two-year period from January 1972 to December 1973 was surveyed. A total of 1,413 admission records which included all but two-hundred sixteen patients whose records failed to specify primary diagnosis were subjected for present study. Primary diagnoses were classified into following seven categories: single-gene disorders, chromosomal abnormalities, polygenic disorders, probably genetic disorders, developmental anomalies, unknown etiology, and environmental group. The number of primary diagnoses and rate per 100 patients are as follows: Single-gene disorders, 25(1.8%); chromosomal abnormalities, 6(0.4%); polygenic disorders,127(9.0%); probably genetic disorders,43(3.0%); developmental anomalies, 22(1.6%); unknown etiology, 21(1.5%), and environmental group, 1,169(82.9%). Although environmental group is still major category of pediatric in-patients, the data obtained indicate the necessity for pediatricians caring the children of ability in an exact diagnosis and accurate family history taking, understanding of fundamentals of genetic principles as well as knowledge of recent literatures on specific disorders.
Child ; Chromosome Aberrations ; Chromosome Disorders ; Diagnosis ; Humans ; Incidence* ; Seoul

Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; Female ; Humans ; Practice Patterns, Physicians' ; Pregnancy ; Prenatal Diagnosis ; methods

The M-FISH includes multi-colour FISH and multiplex FISH, it represents one of the most significant developments in molecular cytogenetics of the past decade. This technique was originally designed to generate 24 colour karyotyping in human's 23 pair chromosome, now the technique has many variations and has been used in different fields. In leukaemia cytogenetics, the M-FISH now is used in detection for AL patients with following chromosome abnormality: (1) harbouring minimal chromosome translocation is respected; (2) chromosome translocation with complex abnormal karyotypes exists in patients with leukemia which are difficulty detected by using conventional method. The final results detected by M-FISH have guide significance for diagnosis, therapy and prognosis of AL patients. In this article the technical basis with commonly used probe for M-FISH, application of M-FISH in diagnosis, evaluation of therapeutic efficacy and prognostic analysis of AL patients are summarised.
Acute Disease ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia ; diagnosis ; Prognosis

OBJECTIVE: To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) for prenatal diagnosis. METHODS: G-banding karyotyping and CMA were simultaneously performed on 546 women who were subjected to amniocentesis during middle pregnancy. RESULTS: In total 82 cases were detected with chromosomal abnormalities. The two methods were consistent in 43 cases, which included 14 trisomy 21, 6 trisomy 18, 1 trisomy 13, 14 sex chromosomal aneuploidies, 4 chromosomal deletions, 3 chromosomal duplications and 1 sex chromosomal mosaicism. Fifteen fetuses with chromosomal abnormalities detected by CMA were missed by karyotyping analysis, which included 9 microdeletions and 6 microduplications. Sixteen fetuses with chromosomal abnormalities detected by karyotyping analysis were missed by CMA, which included 15 chromosomal translocations and 1 sex chromosomal mosaicism. In 7 cases, the results of karyotyping analysis and CMA were inconsistent. One supernumerary marker chromosome detected by karyotyping analysis was verified by CMA as 9p13.1p21.1 duplication. CONCLUSION Combined chromosomal karyotyping and CMA can significantly improve the detection rate for chromosomal abnormalities, which has a great value for prenatal diagnosis.
Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; genetics ; Female ; Humans ; Karyotyping ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis

Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; therapy ; Chromosomes, Human, Pair 22 ; genetics ; Female ; Humans ; Infant

OBJECTIVETo assess the value of combined BACs-on-Beads(BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.

METHODSFor 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.

RESULTSIn total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping. Karyotyping analysis has identified an extra yield of 19 chromosomal abnormalities and 34 chromosomal polymorphisms.

CONCLUSIONCombined use of BoBs and chromosomal karyotyping can improve the detection rate of fetal chromosomal abnormalities including microdeletions/microduplications, which should find a wider use in the clinics.

Adult ; Chromosome Aberrations ; Chromosome Disorders ; genetics ; Female ; Humans ; Karyotyping ; Middle Aged ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVE: To explore the suitable process for prenatal screening and diagnosis for women with advanced maternal age. METHODS: From January 2014 to November 2017, the indications and distributions of prenatal diagnosis for women with advanced maternal age only or accompanying with positive maternal serum test screening and non-invasive prenatal testing (NIPT), abnormal fetal ultrasound, one harboring chromosomal abnormalities or anomalous reproductive history were analyzed. The rate of fetal chromosomal abnormalities was compared between different groups. RESULTS: The 351 pregnant women with fetal chromosomal abnormalities have included 196 cases with advanced maternal age, 26 with positive maternal serum test, 96 with high-risk by NIPT, 14 with abnormal fetal ultrasound, 15 with one partner harboring chromosomal abnormalities, and 4 with anomalous reproductive history. Assuming that all pregnant women had undergone maternal serum test screening or NIPT without amniocentesis, the detection rate of fetal chromosome abnormality would be 51.0% and 69.2%, respectively. However, should these women have received both tests, the detection rate would be as high as 84.6%. Should those with one partner harboring chromosomal abnormalities undergone maternal serum test screening or NIPT without amniocentesis, the detection rate of fetal chromosomal abnormality would only be 6.7%. CONCLUSION Should pregnant women with advanced maternal age undergo both maternal serum test and NIPT, the detection rate of fetal chromosomal abnormality will be higher than those receiving only maternal serum test screening or NIPT. Couples with one partner harboring chromosomal abnormalities should undergo prenatal diagnosis by amniocentesis.
Amniocentesis ; Chromosome Aberrations ; Chromosome Disorders ; Female ; Humans ; Maternal Age ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo determine the applicability of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies in prenatal diagnosis.

METHODSA total of 561 prenatal samples were analyzed in parallel by MLPA and traditional karyotyping. Another 20 clinical samples with known common chromosome abnormalities were also determined by MLPA to evaluate the accuracy and reliability of MLPA. The results obtained from MLPA were compared with that from traditional karyotyping.

RESULTSThe results were available within 48 h. A total of 38 aneuploidies were identified by MLPA, including 20 cases of trisomy 21, 10 cases of trisomy 18, 1 case of trisomy 13, 4 cases of Turner syndrome, 1 case of Klinefelter syndrome, 1 case of 47, XYY trisomy and 1 case of 48,XYY, +18. MLPA was able to detect all the expected aneuploidies with 100% accuracy. The results obtained from MLPA agreed with traditional karyotyping. Among 561 prenatal samples, the results of 550 samples were concordant with those of karyotyping, and the coincidence rate of MLPA was 98.04%.

CONCLUSIONMLPA is a rapid, simple and reliable method for detection of the most common chromosome aneuploidies in prenatal diagnosis. MLPA is a valuable tool in prenatal clinical practice.

Adult ; Aneuploidy ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; Female ; Humans ; Karyotyping ; Nucleic Acid Amplification Techniques ; Pregnancy ; Prenatal Diagnosis ; Young Adult

OBJECTIVE: To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques. METHODS: Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus. RESULTS: SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin. CONCLUSION Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
Chromosome Deletion ; Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 22 ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo evaluate value of spectral karyotyping (SKY) in the detection of chromosomal abnormalities.

METHODSA total of 17 metaphase chromosome samples were investigated by SKY, including 10 normal and 5 balanced translocation samples of peripheral blood lymphocytes, one der(Y) sample of peripheral blood lymphocytes and one marker chromosome sample of amniotic fluid cells. The results were compared with those of G-banding diagnosis.

RESULTSTen normal and 5 balanced translocation samples were diagnosed successfully by SKY in accordance with the results of G-banding; furthermore, SKY analysis revealed that the der(Y) fragment originated from p-arm of chromosome 21 while the marker chromosome originated from chromosome 5.

CONCLUSIONSKY is a very sensitive and specific whole genome analysis tool for chromosomal abnormality diagnosis, and exceedingly valuable in the diagnosis on complex chromosomal abnormalities that can not be determined by G-banding.

Chromosome Aberrations ; Chromosome Banding ; methods ; Chromosome Disorders ; diagnosis ; genetics ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Spectral Karyotyping ; methods