BACKGROUND: Chromosomal aberration is one of the major causes of amenorrhea. So we studied the incidence and the clinical importance of chromosomal aberration in patients with amenorrhea. METHODS: Cytogenetic investigations were carried out on 101 women with amenorrhea from Jan. 1990 to Dec. 1998. Peripheral blood lymphocytes were cultured for chromosomal studies by the standard method. RESULTS: In primary amenorrhea, 27 cases (38.6%) showed aberrations of chromosome. 45,X and their mosaicism were 14 cases (20.0%), structural anomalies of the X chromosome were 6 cases (8.6%) and the presence of Y chromosome, 5 cases (7.1%). In secondary amenorrhea, one case (3.2%) showed aberration of chromosome. CONCLUSIONS: The overall incidence of chromosomal aberration in amenorrhea was 27.7%. Cytogenetic screening is very important for the investigation of causes of the amenorrhea.
Amenorrhea* ; Chromosome Aberrations ; Cytogenetic Analysis* ; Cytogenetics* ; Female ; Humans ; Incidence ; Lymphocytes ; Mass Screening ; Mosaicism ; X Chromosome ; Y Chromosome

To investigate the polymorphism and mutation of the C-stretch of the D-loop in mitochondrial DNA in the maternal lineages in Koreans, Amp-FLP (amplified fragment length polymorphism), cloning and sequencing, and analysis of overlapped signals of the end of C-stretch after enlargement of Y axis of electropherogram were performed in 104 random objects and 63 families which are confirmed by STR analysis of autosome, Y chromosome, X chromosome and D-loop of mitochondrial DNA. Analysis of Amp-FLP and enlargement of Y axis of electropherogram are better than sequencing after cloning in the analysis of C-stretch. C- stretch 16183 has 15 genotypes, C-stretch 303 has 14 genotypes, C-stretch 568 has 6 genotypes, These results are useful for individual identification. However, mutation of C-stretch 16183, C-stretch 303, and C-stretch 568 were observed in 5 (7.9%), 7 (11.1%), and 1 (1.6%) cases among the 63 families. It means the C-stretch cannot be applied to analyze the genetic pattern in the maternal lineages. Conclusively, Amp-FLP and enelargement of Y axis of electropherogram are enough for analysis of C-stretch. Analysis of C-stretch is useful for individual identification and not in the study of maternal lineages.
Axis, Cervical Vertebra ; Clone Cells ; Cloning, Organism ; DNA, Mitochondrial* ; Genotype ; Humans ; X Chromosome ; Y Chromosome

Turner syndrome is a genetic disorder that affects about 1/2,000-1/5,000 females born. The typical female with Turner syndrome has only one X chromosome in each of her cells. There are several variations on this theme as other similar chromosome anomalies occur in females with Turner syndrome. We observed a patient with short stature, abscent vagina and chromosomal abnormality. Chromosomal analysis of the patient showed 45,X/46,X, +mar. The marker chromosome was revealed as X chromosome in fluorescent in situ hybridization (FISH). We report a case of mos 45,X/46,X,+mar.ish der(X)(wcp X+) in Turner syndrome with a brief review of literature.
Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Turner Syndrome* ; Vagina ; X Chromosome

PURPOSE: Whether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq) play a role in three-year height response to growth hormone (GH) were investigated. METHODS: Paternal (Xp) or maternal (Xm) origin of X chromosome was assessed by microsatellite marker analysis and the presence of hidden Yseq was analyzed. The first-, second-, and third-year GH response was measured as a change in height z-score (Z_Ht) in Turner syndrome (TS) patients with 45,Xp (n=10), 45,Xm (n=15), and 45,X/46,X,+mar(Y) (Xm_Yseq) (n=8). RESULTS: The mean baseline Z_Ht did not differ according to Xp or Xm origin, however the mean baseline Z_Ht was higher in the Xm_Yseq group than in Xm group, after adjusting for bone age delay and midparental Z_Ht (P=0.04). There was no difference in the height response to GH between the 3 groups. The height response to GH decreased progressively each year (P<0.001), such that the third-year increase in Z_Ht was not significant. This third-year decrease in treatment response was unaffected by Xp, Xm, and Xm_Yseq groups. Increasing GH dosage from the second to third-year of treatment positively correlated with the increase in Z_Ht (P=0.017). CONCLUSION: There was no evidence of X-linked imprinted genes and/or Yseq affecting height response to 3 years of GH therapy. Increasing GH dosages may help attenuate the decrease in third-year GH response in TS patients with 45,X and/or 46,X/+mar(Y).
Genomic Imprinting ; Growth Hormone* ; Humans ; Microsatellite Repeats ; Parents* ; Turner Syndrome* ; X Chromosome* ; Y Chromosome*

OBJECTIVE: To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT). METHODS: NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. The results were then verified by fluorescence in situ hybridization (FISH) on metaphase cells. RESULTS: The NIPT test of pregnant women suggested low risk for 21-trisomy, 18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. The result of high-throughput sequencing chromosome microdeletion/microduplication detection was seq[hg19](X)× 1, (Y)× 2. FISH showed a clear red signal at each end of a whole chromosome, and a green signal on the other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C banding showed that there is a dense and a slightly loose centromere at both ends of the Y chromosome, and the parachromatin region was missing. The karyotype of amniotic fluid and cord blood cells was finally determined to be 46,X, pus idic(Y) (q11.23). CONCLUSION For chromosome anomalies suggested by auxiliary report of NIPT, conventional karyotyping combined with high-throughput sequencing for chromosome microdeletion/microduplication should be adopted for the prevention and reduction of the rate of chromosome microdeletion/microduplication syndromes.
Chromosome Aberrations ; DNA Copy Number Variations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Pregnancy ; Prenatal Diagnosis ; X Chromosome

Charcot-Marie-Tooth X type 1 (CMTX1) is caused by mutations in the connexin 32 gene (Cx32) on the X chromosome. Electrophysiologically, CMTX1 is usually associated with intermediate slowing of conduction velocities and severe impairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporal dispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first time in Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings.
Charcot-Marie-Tooth Disease* ; Humans ; Korea ; Male ; X Chromosome

Choroideremia is characterized by progressive atrophy of choroid and pigment epithelium of retina leading to night blindness and gross loss of field. and is inherited as X chromosome linked intermediate. Authors experienced 2 cases among a family of choroideremia. The clinical finding and brief reviews of literatures are reported as followings.
Atrophy ; Choroid ; Choroideremia* ; Epithelium ; Humans ; Night Blindness ; Retina ; X Chromosome

PURPOSE: Dysplasia or flat adenoma of the stomach is regarded as a precancerous lesion. However, the frequency and the evolutionary process of malignant transformation of gastric dysplasia are still debated. In order to see whether the lesion was a monoclonal or a polyclonal proliferation, clonality was assayed by X-linked HUMARA polymorphism. MATENRIALS AND METHODS: DNA was extracted from the paraffin-embedded tissue of 16 consecutive cases of endoscopic biopsy, eight of which supplied both dysplastic and nondysplastic tissue for comparison. HUMARA was amplified by PCR with or without pretreatment with methylation- sensitive restriction enzyme, HpaII. The amplification products were electrophoresed on polyacrylamide gel and silver-stained. RESULTS: Among the 16 cases, 13 cases were informative and 3 cases noninformative. Of the 13 cases, one case showed skewed lyonization, rendering 12 cases to be analyzed further. A monoclonal band pattern was noted in 2 cases, and a polyclonal band pattern in 10 cases. A review of the histopathologies of the monoclonal and the polyclonal cases did not reveal features discriminating the two groups. CONCLUSION: These results suggest that gastric dysplasia is a disease entity heterogeneous in the genetic level, and many cases may be non-neoplastic.
Adenoma ; Biopsy ; DNA ; Polymerase Chain Reaction ; Stomach* ; X Chromosome Inactivation

Hemophilia is a relatively rare bleeding disorder. It is an X-linked hereditary bleeding disorder caused by a deficient or defective coagulation factor VIII (Hemophilia A) or factor IX (Hemophilia B). Hemophilia A is more common than Hemophilia B. The X-linked inheritance pattern results in men expressing the disease and women typically being carriers. Under rare circumstances a woman can also show a bleeding phenotype.

A 13 year-old female presented with profuse vaginal bleeding. She had history of several hospital admissions because of bleeding manifestations like hematuria and epistaxis. Based on the pedigree analysis and results of factor IX assay tests she was diagnosed to have Hemophilia B of moderate severity. She was given hormonal and non-hormonal treatments as well as blood transfusions which stop the bleeding and corrected the anemia. A multidisciplinary approach of management involving the gynecologist, hematologist and a geneticist will be beneficial to the patient.

The inheritance, clinical manifestations, diagnosis and treatment of Hemophilia B in a female adolescent are discussed

Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle stimulating hormone value of >40 mIU/mL and the frequency of POF is about 1% of all women. Although the etiologies of POF remain unknown, suggested factors are genetic, autoimmune, chemotherapy, radiotherapy and environmental toxins. The cytogenetic abnormalities predominantly concern the X chromosome, including Turner syndrome, Fragile X syndrome and deletion, translocation, or duplication of X chromosome. We report a very rare case of premature ovarian failure with the following karyotype: 46,X,dup(Xq), and report it with a brief review of literature.
Amenorrhea ; Chromosome Aberrations ; Female ; Follicle Stimulating Hormone ; Fragile X Syndrome ; Humans ; Primary Ovarian Insufficiency ; Turner Syndrome ; X Chromosome