Fetal chromosomal anomalies can be of number or of structure, on autosomal or on sex chromosomes. Prevalence of anomalies was approximately 1/150 of live births. However, some chromosomal anomalies did not show abnormal phenotypes. Abnormality of chromosomes was a main cause of spontaneous abortion and stillbirth, especially early abortion. Most of anomalies happened during gametogenesis of parent having normal chromosomes. The others were inherited by abnormalities from parent who had abnormal genotype but normal phenotype. Chromosomal anomalies are diagnosed by recognizing abnormal chromosome. Diagnosis was recommended when abnormal ultrasound was detected or when there were abnormality in history of mother and family. Chromosomal anomalies increased also with maternal age
Chromosome Disorders ; Pregnancy

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

OBJECTIVE: To delineate the origin and structure of 3 cases of small supernumerary marker chromosomes (sSMCs) through cytogenetic and molecular genetic analysis. METHODS: Conventional G, C and N banding were carried out to analyze the chromosomal karyotypes. Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were used to delineate the origin and structure of the sSMCs. RESULTS: In case 1, chromosomal karyotype of peripheral blood sample was 47,XY,+mar. This de novo sSMC was a dual-satellited dicentric inverted duplicated marker chromosome, for which CMA yielded a normal result. It was predicted to not increase the risk of offspring. In case 2, the fetal chromosomal karyotype was 47,XY,+mar[17]/46,XY[33]. Chromosomal banding suggested that this de novo segment contained euchromatin, and the result of CMA was arr[hg19] 5p12q11.1(45 694 574-49 475 697) × 3. FISH showed the sSMC to be a fragment derived from 5p12 containing the HCN1 gene. Case 3 was found to have a fetal karyotype of 45,XY,-13[25]/46,XY,r(13)[18]/46,XY,-13,+mar[7]. Both parents had refused further examination. CONCLUSION Conventional chromosomal banding combined with molecular methods can delineate the origin and structure of the sSMCs, which can help with prediction of their pathogenicity and facilitate genetic counseling.
Chromosome Banding ; Chromosome Disorders ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping

18p deletion syndrome is a rare disorder which is accompanied with mental retardation, facial abnormalities and short stature. Dystonic findings are rarely seen and only 12 cases have been reported in the literature until now. We report here a 26 year old female complaining of spasms on her trunk and limb muscles. Genetic investigation revealed 18p deletion.
Chromosome 18p deletion syndrome ; Dystonic Disorders

OBJECTIVE: Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient. METHODS: The peripheral blood of the patient was cultured for high-resolution chromosome G and C banding karyotype analysis, and then 750K SNP-Array chip detection was performed. RESULTS: Karyotype analysis results showed that the patient's karyotype was 45,XX,-13 [7]/46,XX,r(13) (p13q34) [185]/46,XX,dic r(13;13)(p13q34;p13q34) [14]/ 47,XX,+der(13;13;13;13) (p13q34;p13q34;p13q34; p13q34), dic r(13;13) [1]/ 46,XX [3]. The microarray results showed that the patient had a 3.3 Mb deletion in the 13q34 segment of chromosome 13, which may be related to infertility. CONCLUSION Infertility of the patient reported in this article may be related to the deletion of chromosome segment (13q34-qter).
Adult ; Chimera ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Dacarbazine ; Female ; Humans ; Infertility/genetics* ; Ring Chromosomes

OBJECTIVETo summarize the clinical characteristics as well as diagnosis and treatment in 1 case of acute myeloid leukemia(AML) with coexpression of Ph and inv(16).

METHODSA series of clinical tests, the cellular morphological, immunological, cytogenetic and molecular biological examinations of leukemia cells were performed.

RESULTSThe clinical characteristics of this patient were very common. The cellular morphology is similar to the AML with inv(16). The leukemia cells were stained positively for CD13, CD33, CD34, CD117 and HLA-DR. Karyotypic analysis showed a complex chromosome abnormality including inv(16) and Ph, and the FISH analysis showed that the percentage of rearrangement of CBFβ allele was over that of the BCR-ABL fusion signals. The obvious adverse events did not occur in this patient within 3 years.

CONCLUSIONPh as secondary aberration of inv(16) rarely occures in primary AML cases, and so far there have not been the clear criteria of diagnosis and treatment. The cytogenetic and molecular biology could provide the basis for diagnosis. Moreover, autologous hematopoietic stem cell transplantation combined with imatinib probably is one of the effective treatment methods.

Chromosome Aberrations ; Chromosome Disorders ; Chromosome Inversion ; Fusion Proteins, bcr-abl ; HLA-DR Antigens ; Humans ; Leukemia, Myeloid, Acute ; Philadelphia Chromosome

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

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

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

Chromosome Banding ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Humans ; Infant ; Isochromosomes ; genetics ; Male ; Meiosis