Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The purpose of this study was to evaluate the role of multicolor fluorescence in situ hybridization in simultaneous detection of probe sets for chromosome 18, X, and Y in uncultured amniotic fluid cells as a safer alternative method for aneuploidy detection prenatally. Fifty amniotic fluid samples were analyzed by FISH and standard cytogenetics. Mean time to obtain results was three days for fluorescence in situ hybridization and 20 days for karyotype. Fluorescence in situ hybridization was informative in 43 samples (86%), and within this group, two aneuploidies were correctly identified. This evaluation demonstrates that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory.
Amniocentesis/methods* ; Amniotic Fluid/cytology ; Aneuploidy ; Centromere/genetics ; Chromosomes, Human, Pair 18* ; Color ; DNA Probes ; DNA, Satellite/analysis ; Female ; Human ; In Situ Hybridization, Fluorescence/methods* ; Karyotyping ; Pregnancy ; Sex Chromosome Abnormalities/genetics ; Sex Chromosome Abnormalities/diagnosis* ; X Chromosome* ; Y Chromosome*

Child ; Chromosome Duplication ; genetics ; Craniofacial Abnormalities ; diagnosis ; genetics ; Facies ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Sex Chromosome Disorders ; diagnosis ; genetics

OBJECTIVETo investigate the etiologic factors of globozoospermia.

METHODSRoutine semen analysis, sperm DNA special staining and chromosomal karyotype detection of peripherical blood lymphocytes were performed in a globozoospermia patient.

RESULTSRound-headed spermatozoa were lack of acrosome and the acrosin activity was low. Meanwhile, there was an additional band located in the Y chromosomal short arm.

CONCLUSIONLack of acrosome, low acrosin activity and abnormality of chromosome may be the main reasons for globozoospermia.

Acrosin ; metabolism ; Adult ; Chromosomes, Human, Y ; genetics ; Humans ; Infertility, Male ; etiology ; genetics ; therapy ; Male ; Sex Chromosome Aberrations ; Sperm Injections, Intracytoplasmic ; Spermatozoa ; abnormalities ; ultrastructure

OBJECTIVETo analyze a fetus with increased nuchal translucency and nuchal fold, and to assess the recurrence risk for her family and provide a basis for prenatal diagnosis.

METHODSG-banded karyotyping and single nucleotide polymorphism-based array (SNP-Array) analysis were used to analyze the fetus and her parents.

RESULTSSNP-Array analysis has detected a 41.04 Mb duplication at Xp22.33p11.4 and a 30.51 Mb duplication at 13q31.3q34 in the fetus. G-banding karyotyping indicated that the fetus had a karyotype of 46,X,der(X)(13qter-13q31::Xp11.4-Xp22.3::Xp22.3-Xqter). Her parents had normal results for both G-banding karyotyping and SNP-Array analysis, suggesting that the fetus has carried a de novo derivative chromosome X.

CONCLUSIONSNP-Array combined with G-banding karyotyping is helpful to confirm the composition and connection type of de novo derivative chromosome, which can improve the accuracy of diagnosis and is valuable for the evaluation of recurrence risk.

Adult ; Chromosome Banding ; Chromosome Duplication ; Chromosomes, Human, X ; genetics ; Female ; Fetus ; abnormalities ; metabolism ; Humans ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; methods ; Sex Chromosome Aberrations

Pregnancies achieved by assisted reproduction technologies, particularly by intracytoplasmic sperm injection (ICSI) procedures, are susceptible to genetic risks inherent to the male population treated with ICSI and additional risks inherent to this innovative procedure. The documented, as well as the theoretical, risks are discussed in the present review study. These risks mainly represent that consequences of the genetic abnormalities underlying male subfertility (or infertility) and might become stimulators for the development of novel approaches and applications in the treatment of infertility. In addition, risks with a polygenic background appearing at birth as congenital anomalies and other theoretical or stochastic risks are discussed. Recent data suggest that assisted reproductive technology might also affect epigenetic characteristics of the male gamete, the female gamete, or might have an impact on early embryogenesis. It might be also associated with an increased risk for genomic imprinting abnormalities.
Animals ; Child, Preschool ; Chromosome Aberrations ; Chromosome Deletion ; Congenital Abnormalities ; genetics ; Epigenesis, Genetic ; Female ; Genomic Imprinting ; HIV Infections ; transmission ; Haploidy ; Humans ; Infant ; Infectious Disease Transmission, Vertical ; Infertility, Male ; genetics ; Klinefelter Syndrome ; genetics ; Male ; Pregnancy ; Preimplantation Diagnosis ; Risk ; Sex Chromosome Aberrations ; Sperm Injections, Intracytoplasmic ; adverse effects ; Spermatogenesis ; genetics ; Translocation, Genetic ; genetics ; X Chromosome ; genetics ; XYY Karyotype ; genetics

Abnormalities, Multiple ; genetics ; metabolism ; pathology ; surgery ; Actins ; metabolism ; Adolescent ; Chromosome Inversion ; Chromosomes, Human, Y ; Diagnosis, Differential ; Disorders of Sex Development ; genetics ; pathology ; Humans ; Hypospadias ; pathology ; surgery ; Male ; Mullerian Ducts ; abnormalities ; metabolism ; pathology ; surgery ; Neprilysin ; metabolism ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism ; Syndrome