Identification of origins of marker chromosomes using fluorescence in situ hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes.</p><p><b>METHODS</b>Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH.</p><p><b>RESULTS</b>The marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case).</p><p><b>CONCLUSION</b>FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.</p>

Ring 22 chromosome syndrome induced azoospermia: a case report and literature review / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the clinical phenotype and genetic characteristics of an azoospermia patient with ring 22 chromosome syndrome.</p><p><b>METHODS</b>We analyzed the clinical data of an azoospermia patient with ring 22 chromosome syndrome and reviewed relevant literature.</p><p><b>RESULTS</b>The patient was a short 29-year-old male, with bilateral testes small in size and soft in texture. Seminal examination indicated azoospermia. Chromosome analysis showed the karyotype of the patient to be 46, XY, r (22) (p11, q25). The level of testosterone was low, and the testicular tissue was brittle and easy to break. Pathological microscopy revealed reduced number of Sertoli cells and germ cells in the seminiferous tubules and thinner layers of cells. All the germ cells were spermatogonia. Neither spermatocytes nor sperm cells were found, which suggested complete spermatogenic failure. Mild interstitial fibrosis was visible in part of the seminiferous tubule walls.</p><p><b>CONCLUSION</b>Patients with ring 22 chromosome syndrome usually represent normal clinical phenotypes. However, this kind of genetic abnormality often induces severe testicular damage and spermatogenic arrest, which may result in azoospermia.</p>

Genetic counseling and clinical outcome of fetus with de novo chromosomal aberrations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the chromosome rearrangements and clinical outcome in fetus detected at prenatal diagnosis, and provide information for genetic counseling about de novo chromosomal aberrations.</p><p><b>METHODS</b>From January 2006 to December 2009, we found 12 cases of de novo chromosomal aberrations in 2 583 cases of prenatal cytogenetic analyses and reviewed the karyotypes, other experimental analyses data, fetal ultrasound findings and clinical outcomes.</p><p><b>RESULTS</b>Out of the 12 de novo chromosomal aberrations, 10 had unbalanced translocations and 2 had balanced reciprocal translocations. Eight of the 10 unbalanced translocation cases were terminated therapeutically, and 2 were delivered with full term. Neonates were phenotypically normal in the 2 cases with unbalanced translocations, but 1 had language retardation when followed up. The two balanced translocation cases were delivered with full term, and the neonates were phenotypically normal and clinical examinations were normal too.</p><p><b>CONCLUSION</b>Detailed cytogenetic and molecular study will be adjunctive tools for predicting the phenotype of fetus with de novo chromosomal aberrations. Fetal ultrasound examination will provide convincible demonstration to determine the outcome of pregnancy.</p>

Application of fluorescence in situ hybridization in prenatal diagnosis of complex chromosomal abnormalities / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the application of fluorescence in situ hybridization (FISH) technique in prenatal diagnosis of complex chromosomal abnormalities.</p><p><b>METHODS</b>Eleven prenatal diagnosis cases (8 from amniocentesis and 3 from cord blood) with complex chromosomal abnormalities detected by routine G-banding, were further analyzed by FISH.</p><p><b>RESULTS</b>The FISH technique confirmed the results of balanced chromosome rearrangements detected by G-banding, and clarified the structure of the derivative chromosomes in the 3 amniocentesis samples and the origin of the mark chromosomes in the 2 cord blood samples.</p><p><b>CONCLUSION</b>FISH can be used to diagnose the complex chromosomal abnormalities accurately in prenatal diagnosis, and can provide very useful genetic information for clinical diagnosis and treatment.</p>

Molecular cytogenetic studies of 25 males with azoospermia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical correlation of chromosome abnormalities and microdeletion in azoospermic factor (AZF) region on Y chromosome in 25 patients with azoospermia.</p><p><b>METHODS</b>Chromosome analyses were performed by using chromosome GTG-banding, Q-banding, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) for AZF region on chromosome Yq.</p><p><b>RESULTS</b>Seven cases showed abnormal chromosome karyotype (28%). In 8 azoospermic patients tested, 2 showed microdeletions of AZFb (SY127, SY134)+ AZFc (SY254, SY255) and AZFc(SY243, SY158) on chromosome Yq, respectively.</p><p><b>CONCLUSION</b>Chromosome abnormalities and AZF microdeletion are major cause of azoospermia leading to male infertility; male with azoospermia and infertility should be referred to cytogenetic diagnosis by using chromosome GTG-banding, Q-banding after ruling out clinical factors including testopathy, obstructive azoospermia, and abnormalities in incretion and immune system. FISH or PCR analysis for AZF region on chromosome Yq should be done for the patient with azoospermia if Q-banding indicates the deletion above Yq12 region. It is of essential importance to provide precise diagnosis in genetic counseling for further clinical treatment.</p>

Molecular and cytogenetic study on 18 cases of amenorrhea: the use of fluorescence in situ hybridization and high resolution-comparative genomic hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the use of fluorescence in situ hybridization (FISH) and high resolution-comparative genomic hybridization (HR-CGH) techniques in amenorrhea study.</p><p><b>METHODS</b>After routine gynecologic examination, ultrasonography and endocrine examination, 17 cases of primary amenorrhea and 1 case of secondary amenorrhea were analysed by using chromosomal diagnoses including multiplex FISH and HR-CGH analyses.</p><p><b>RESULTS</b>Among 17 cases of primary amenorrhea, 7 revealed a 46,XX karyotype; 10 cases (58.8%) had abnormal karyotype, including 3 cases of 46,XY females, 2 cases of Turner's syndrome with 45,X and 45,X/46,XX, and other 5 cases with abnormal structure of X chromosome (including partial monosomy of X,X isochromosome and X/Y mosaic). The karyotype of the patient with secondary amenorrhea was translocation between X chromosome and euchromosome.</p><p><b>CONCLUSION</b>The using of FISH and HR-CGH can correctly diagnose the patients' karyotypes, and provide absolutely necessarily medical genetic data for clinical diagnosis and therapy.</p>