1/5. Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic klinefelter syndrome but with two maternal X chromosomes.AIMS: To describe the tall stature and its possible underlying mechanism in a Caucasian girl (age 12 years and 10 months) with 46,XX (28%)/47,XXX (72%) mosaicism and to identify the parental origin of her extra x chromosome. methods: The fasting glucose-to-insulin ratio was studied. The karyotypes of the girl and her parents as well as the presence of SHOX copies and the parental origin of her extra x chromosome were assessed. RESULTS: Clinical examination revealed a tall stature and severe acne, and endocrinological/metabolic assessment revealed insulin resistance. fluorescence in situ hybridization cytogenetic analysis depicted the presence of three SHOX genes in the 47,XXX cell line of the patient. karyotyping of her parents showed a normal 46,XX karyotype in the mother and 46,XY(93%)/47,XXY(7%) Klinefelter mosaicism in the father. However, dna analysis unequivocally showed maternal origin of the extra x chromosome of the patient. CONCLUSIONS: This report suggests that SHOX gene triplication may produce a tall stature, even in the presence of preserved ovarian function. X triplication might predispose to insulin resistance and behavioral disorders.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/5. 49, XXXXY syndrome.49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/5. Analysis of SRY gene in 8 cases of sex abnormality.In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/5. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.FG syndrome is an X-linked multiple congenital anomalies (MCA) syndrome. It has been mapped to four distinct loci FGS1-4, through linkage analysis (Xq13, Xp22.3, and Xp11.4-p11.3) and based on the breakpoints of an X chromosome inversion (Xq11:Xq28), but so far no gene has been identified. We describe a boy with FG syndrome who has an inherited duplication at band Xq22.3 detected by comparative genomic hybridization microarray (Array-CGH). These duplication maps outside all four loci described so far for FG syndrome, representing therefore a new locus, which we propose to be called FGS5. MID2, a gene closely related to MID1, which is known to be mutated in Opitz G/BBB syndrome, maps within the duplicated segment of our patient. Since FG and Opitz G/BBB syndromes share many manifestations we considered MID2 a candidate gene for FG syndrome. We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
5/5. A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral gonadoblastoma shared a male karyotype with a rearranged y chromosome, interpreted as a pericentric inversion. The breakpoints, defined by fluorescent in situ hybridization (FISH), were located on the very distal short arm on band Yp11.31 and in the middle of the Yq12 long arm heterochromatic region. FISH analysis documented that the short arm breakpoint was 93 Kb distal to SRY and disrupted the CD99 gene, which was transposed to the distal portion of Yq12. The proposita's phenotype was similar to that of XY individuals with gonadal dysgenesis but without signs of Ullrich-turner syndrome. There were no mutations in the SRY gene. cytogenetic analysis in the proposita's father showed mosaicism of a normal y chromosome and several different rearrangements, such as deletion of a heterochromatin portion at band Yq12.2, a fragile site at the same band, structural rearrangements between the Y-chromosome and other autosomes, Y-chromosome aneuploidies, and "Premature centromere Division" (PCD) anomaly. The proposita's inverted y chromosome appears to have originated from paternal y chromosome instability. The patient's female phenotype could be due to SRY CpG methylation-mediated positional effects (PEV).- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |