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

Myelodysplastic syndromes (MDS) are a group of clonal hematopioetic disorders characterized by myelodysplasia, decreased peripheral blood cells and high-risk of transformation into acute leukemia. MDS are often accompanied by a variety of chromosomal aberrations which play a role in disease pathogenesis, and are crucial in diagnosis and prognostic evaluation of this disease. About half of the patients with MDS have chromosomal abnormalities, mainly unbalanced chromosomal aberration. Different chromosomal aberration types are associated with different clinical outcome of this disease. Though balanced chromosomal translocations are not common in MDS, it seems that the patients with them have a higher leukemia transformation rate than those with other type of chromosomal aberrations. In this review, the chromosomal aberrations in MDS and their clinical significance for diagnosis and prognosis are briefly summarized.
Acute Disease ; Cell Transformation, Neoplastic ; Chromosome Aberrations ; Chromosome Disorders ; Humans ; Leukemia ; Myelodysplastic Syndromes ; genetics ; Prognosis

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

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