Cri-du-Chat Syndrome ; complications ; Humans ; Infant, Newborn ; Male ; XYY Karyotype

OBJECTIVETo identify the genetic cause for a family featuring language retardation using combined cytogenetic and molecular genetic methods.

METHODSFollowing conventional G-banded karyotype analysis, the additional Y chromosome was identified by fluorescence in situ hybridization (FISH) and multiplex ligation dependent probe amplification (MLPA). Whole genome array comparative genomic hybridization (aCGH) was also carried out to detect minor structural chromosomal abnormalities.

RESULTSThe proband's karyotype was determined as 47,XY,+?, and the unknown aberrant chromosome was identified as Yqh+ with FISH, MLPA and aCGH. No other chromosomal abnormality was found in the pedigree.

CONCLUSIONCytogenetic methods combined with FISH, MLPA, and aCGH can efficiently identify the origin of unknown chromosomes and provide accurate clues for clinical diagnosis and treatment.

Child, Preschool ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Multiplex Polymerase Chain Reaction ; Sex Chromosome Disorders ; genetics ; XYY Karyotype ; genetics

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.
Biopsy ; Child ; Chromosome Aberrations ; Cytogenetic Analysis ; Drug Therapy ; Esthesioneuroblastoma, Olfactory* ; Humans ; Karyotype ; Lymph Nodes ; Male* ; Methylphenidate ; Nasal Cavity ; Nasal Obstruction ; Nasal Polyps ; Neuroblastoma ; Recurrence ; Violence ; XYY Karyotype*

OBJECTIVETo explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY, +mar and supermale syndrome.

METHODSConventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients.

RESULTSAmong these cases, 18 had their small supernumerary marker derived from the Y chromosome. Three were derived from autosomal chromosomes. Those derived from Y chromosome were small fragments with centromeres, while those derived from autosomes were in the ring form.

CONCLUSIONIn children with supermale syndrome and 47,XYY/47,XY,+ mar, the supernumerary marker chromosomes primarily derive from sex chromosomes. These small chromosomes mainly have the forms of small segments with centromeres or rings. For such children, molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Sex Chromosome Disorders ; genetics ; XYY Karyotype ; genetics

Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY.
ABO Blood-Group System ; Adult ; Alleles ; Blood Grouping and Crossmatching ; Chimera ; Chimerism ; Chromosome Disorders/*diagnosis/*genetics ; Genotype ; Humans ; Karyotyping ; Korea ; Male ; Phenotype ; Sequence Analysis, DNA ; *XYY Karyotype

Background: The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment. Methods: This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was <5. Results: The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis (65.4%). The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 (10.4%), 14 (3.2%), 24 (5.5%), and 67 (15.5%), respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 (57.4%), including implanted embryos on day 4/day 5 and cryopreserved. The rates of good-quality embryos in the no nuclei fixed (22.2%), no signal in fixed nuclei (28.6%), and suspensive signal groups (33.3%) were comparable (P > 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively. Conclusions Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.
Female ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Male ; genetics ; Male ; Pregnancy ; Preimplantation Diagnosis ; Retrospective Studies ; Sex Chromosome Disorders ; diagnosis ; genetics ; XYY Karyotype ; diagnosis ; genetics

AIMTo investigate the possible causes of oligozoospermia and azoospermia in infertile Thai men, and to find the frequencies of Y chromosome microdeletions and cytogenetic abnormalities in this group.

METHODSFrom June 2003 to November 2005, 50 azoospermic and 80 oligozoospermic men were enrolled in the study. A detailed history was taken for each man, followed by general and genital examinations. Y chromosome microdeletions were detected by multiplex polymerase chain reaction (PCR) using 11 gene-specific primers that covered all three regions of the azoospermic factor (AZFa, AZFb and AZFc). Fifty men with normal semen analysis were also studied. Karyotyping was done with the standard G- and Q-banding. Serum concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL) and testosterone were measured by electrochemiluminescence immunoassays (ECLIA).

RESULTSAzoospermia and oligozoospermia could be explained by previous orchitis in 22.3%, former bilateral cryptorchidism in 19.2%, abnormal karyotypes in 4.6% and Y chromosome microdeletions in 3.8% of the subjects. The most frequent deletions were in the AZFc region (50%), followed by AZFb (33%) and AZFbc (17%). No significant difference was detected in hormonal profiles of infertile men, with or without microdeletions.

CONCLUSIONThe frequencies of Y chromosome microdeletions and cytogenetic abnormalities in oligozoospermic and azoospermic Thai men are comparable with similarly infertile men from other Asian and Western countries.

Azoospermia ; blood ; genetics ; Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Y ; DNA Primers ; Follicle Stimulating Hormone ; blood ; Humans ; Infertility, Male ; blood ; genetics ; Karyotyping ; Luteinizing Hormone ; blood ; Male ; Oligospermia ; blood ; genetics ; Prolactin ; blood ; Sequence Deletion ; Sex Chromosome Aberrations ; XYY Karyotype

OBJECTIVETo explore the genetic cause for a boy featuring mainly with mental retardation.

METHODSG-banding karyotyping and fluorescence in situ hybridization (FISH) were carried out for the child and his parents. The child was also analyzed with chromosome microarray (CMA). Suspected microdeletion was validated with quantitative PCR.

RESULTSThe proband was found to have a 47,XYY karyotype by both chromosome and FISH analyses, while both of his parents had a normal karyotype. CMA suggested that the proband had one copy of X chromosome and two copies of Y chromosome. In addition, CMA has also detected deletion of the KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed by qPCR.

CONCLUSIONFor its high resolution, CMA can be used to identify potential microdeletion/duplications among children with chromosome aneuploidy and unusual phenotypes.

Adult ; Child, Preschool ; Chromosome Banding ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Sex Chromosome Disorders ; diagnosis ; genetics ; XYY Karyotype ; diagnosis ; genetics

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