A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47,XYY male.


:Two semen samples from a 47,XXY male were examined using chromosome-specific DNA probes and fluorescent in situ hybridization (FISH) to determine the distribution of sex chromosomes and an autosome (chromosome 17) in the sperm. A motile population of sperm was also prepared from one sample using the swim-up technique to compare the motile and total sperm populations. Chromosomes were localized using single FISH and a biotinylated chromosome 17 probe (TR17), or double FISH using a biotinylated X chromosome probe (TRX) and a digoxigenin-labelled Y chromosome probe (HRY). Labelling efficiencies were 95-98%. Ploidy levels were estimated by measurement against a microscope eye-piece graticule. The overall ratio of X- to Y-bearing sperm was 47% to 48.4% in the neat samples, and 48.4% to 45.3% in the swim-up fraction. Neither of the ratios was significantly different from 1:1. The frequencies of monosomic and disomic (but otherwise haploid sperm) were not different from the frequencies we observed in normal donors. In contrast, the frequencies of both diploid and tetraploid cells were increased in the neat samples of the XYY male. In the swim-up fractions, however, none of these parameters differed from those of ten normal semen donors. These results support the hypothesis that the extra Y chromosome in XYY men is eliminated during spermatogenesis.


Clin Genet


Clinical genetics


Han TH,Ford JH,Flaherty SP,Webb GC,Matthews CD




Has Abstract


1994-02-01 00:00:00












  • Low chiasma frequency as an aetiological factor in male infertility.

    abstract::Among 120 meiotic analyses of infertile men there were three cases with a particular meiotic anomaly: low chiasma count at diakinesis and spermatogenic arrest. All clinical findings, hormonal analyses and karyotypes from peripheral blood were normal. Meiotic studies showed that pachytene pairing was complete, but in d...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Mićić M,Mićić S,Diklić V

    更新日期:1982-11-01 00:00:00

  • Delineation of 15q13.3 microdeletions.

    abstract::The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients w...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Masurel-Paulet A,Andrieux J,Callier P,Cuisset JM,Le Caignec C,Holder M,Thauvin-Robinet C,Doray B,Flori E,Alex-Cordier MP,Beri M,Boute O,Delobel B,Dieux A,Vallee L,Jaillard S,Odent S,Isidor B,Beneteau C,Vigneron J,

    更新日期:2010-08-01 00:00:00

  • Clinical consequences of heterozygosity for autosomal-recessive diseases.

    abstract::Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong ...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Vogel F

    更新日期:1984-05-01 00:00:00

  • Progress in searching for susceptibility loci and genes for smoking-related behaviour.

    abstract::Smoking behaviour is influenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that heritability is at least 50% responsible for both smoking initiation and smoking persistence. Furthermore, the extent, to which genetic and environmental factors contribute to smoki...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Li MD,Ma JZ,Beuten J

    更新日期:2004-11-01 00:00:00

  • Marden-Walker syndrome: case report, literature review and nosologic discussion.

    abstract::The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

    更新日期:1993-06-01 00:00:00

  • A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.

    abstract::Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly increased our ability to acquire large amounts of genetic data. The interpretation of this data remains challenging, as the clinical significance of genetic variation ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Eggington JM,Bowles KR,Moyes K,Manley S,Esterling L,Sizemore S,Rosenthal E,Theisen A,Saam J,Arnell C,Pruss D,Bennett J,Burbidge LA,Roa B,Wenstrup RJ

    更新日期:2014-09-01 00:00:00

  • Early childhood development of four boys with 47, XXY karyotype.

    abstract::In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Puck M,Tennes K,Frankenburg W,Bryant K,Robinson A

    更新日期:1975-01-01 00:00:00

  • Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

    abstract::Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the lite...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Dworschak GC,Crétolle C,Hilger A,Engels H,Korsch E,Reutter H,Ludwig M

    更新日期:2017-05-01 00:00:00

  • Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome.

    abstract::Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal f...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Ashkinadze E,Rosen T,Brooks SS,Katsanis N,Davis EE

    更新日期:2013-06-01 00:00:00

  • Restriction fragment length polymorphisms at the apoprotein genes AI, CIII and B-100 and in the 5' flanking region of the insulin gene as possible markers of coronary heart disease.

    abstract::Several sequence variations were examined for being endogenous "risk markers" in the development of CHD. The "markers" in this study included: the PstI-SstI RFLPs in the apo AI-CIII gene cluster, the EcoRI-MspI RFLPs in the apo B100 gene and the SstI RFLP in the 5' flanking region of the insulin gene. The study popula...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Wick U,Witt E,Engel W

    更新日期:1995-04-01 00:00:00

  • A new case of dup(3q) syndrome due to a pure duplication of 3qter.

    abstract::The characteristic clinical features of the dup(3q) syndrome include typical facial features, mental and growth retardation, and (often) congenital heart anomalies. However, pure duplication of 3qter is rare because most of the reported cases are patients who carry an unbalanced translocation and, in addition to the d...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Faas BH,De Vries BB,Van Es-Van Gaal J,Merkx G,Draaisma JM,Smeets DF

    更新日期:2002-10-01 00:00:00

  • Reporter gene analysis of four DNaseI hypersensitive sites in the plasminogen/apolipoprotein(a) intergenic region.

    abstract::We have previously described four DNaseI hypersensitive sites (DH 1 to DH4) in the 40-kb intergenic region between the plasminogen gene and the apo(a) gene. Here, we wanted to analyse whether any of these sites, located 4, 21, 28 and 34 kb upstream of the apo(a) transcriptional start site, would act as an enhancer on ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Acquati F,Rönicke V,Taramelli R,Müller HJ

    更新日期:1997-11-01 00:00:00

  • Spastic paresis, glaucoma and mental retardation--a probable autosomal recessive syndrome?

    abstract::A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once-removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive s...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Chenevix-Trench G,Leshner R,Mamunes P

    更新日期:1986-11-01 00:00:00

  • alpha1-Antitrypsin deficiency in twins and parents-of-twins.

    abstract::Serum-trypsin-inhibitory-capacity (STIC) and alpha1-antitrypsin (AAT) genotypes were evaluated in 83 twins and 112 paired parents-of-twins. An increased prevalence (17.0--21.9%) of intermediate AAT deficiency (STIC less than 0.95 units/ml) was detected in both of these groups as compared to a prevalence of 4.1% in 1,8...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Lieberman J,Borhani NO,Feinleib M

    更新日期:1979-01-01 00:00:00

  • HJV gene mutations in European patients with juvenile hemochromatosis.

    abstract::A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Seque...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Gehrke SG,Pietrangelo A,Kascák M,Braner A,Eisold M,Kulaksiz H,Herrmann T,Hebling U,Bents K,Gugler R,Stremmel W

    更新日期:2005-05-01 00:00:00

  • Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

    abstract::The Pakistani population has become an important resource for research on autosomal recessive non-syndromic hearing impairment (ARNSHI) due to the availability of large extended and highly consanguineous pedigrees. Here is presented the first report on the prevalence of gap junction beta-2 (GJB2) variants in Pakistan....

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Santos RL,Wajid M,Pham TL,Hussan J,Ali G,Ahmad W,Leal SM

    更新日期:2005-01-01 00:00:00

  • Single mandibular incisor in a patient with del (18p) anomaly.

    abstract::A single mandibular incisor and an unusually narrow mandible and tongue were noted in an 8-year-old moderately retarded boy with 18p- (45, XY, der dic (18) (18qter-p11.2::22p 11.2-qter). While a single maxillary incisor, considered a minor feature of holoprosencephaly, was reported in three cases of 18p-, reduction of...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Pfeiffer RA,Hertrich K,Cohen M

    更新日期:1994-12-01 00:00:00

  • Amniotic fluid cell culture II. Evaluation of a red blood cell lysis procedure for culture of cells from blood-contaminated amniotic fluid.

    abstract::Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Felix JS,Doherty RA

    更新日期:1979-03-01 00:00:00

  • Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.

    abstract::Noonan syndrome (NS) is a congenital abnormality that affects multiple parts of the body. Approximately 50% of cases are caused by mutations in the PTPN11 gene. NS shares many clinical features with a group of developmental disorders including Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Recently, KRAS...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Lee ST,Ki CS,Lee HJ

    更新日期:2007-08-01 00:00:00

  • The inactivation of the fragile X chromosome in female carriers of the Martin Bell syndrome as studied by two different methods.

    abstract::Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyo...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Tuckerman E,Webb T

    更新日期:1989-07-01 00:00:00

  • mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.

    abstract::Mitochondria are the largest generator of ATP in the cell. It is therefore expected that energy-requiring processes such as oocyte maturation, early embryonic or fetal development, would be adversely impacted in case of mitochondrial deficiency. Human mitochondrial DNA (mtDNA) mutations constitute a spontaneous model ...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Steffann J,Monnot S,Bonnefont JP

    更新日期:2015-11-01 00:00:00

  • Characterization of a Y/15 translocation by banding methods, distamycin A treatment of lymphocytes and DNA restriction endonuclease analysis.

    abstract::A de novo 14/21 Robertsonian translocation and a familially inherited Y/15 translocation were observed in a male infant with anomalies of the external genitalia. The Y/15 translocation was confirmed by cultivating lymphocytes in a medium containing distamycin A and by determining the occurrence of the Y-specific DNA s...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Schmid M,Schmidtke J,Kruse K,Tolksdorf M

    更新日期:1983-10-01 00:00:00

  • Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada.

    abstract::From a large cohort of hyperlipidemic patients, who attended the Lipid Research Clinic in Amsterdam, The Netherlands and in Vancouver, Canada, 915 consecutive patients with familial hypercholesterolemia (FH) of Dutch descent, were selected. This group of FH patients was screened for the presence of a cytosine to thymi...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Defesche JC,van de Ree MA,Kastelein JJ,van Diermen DE,Janssens NW,van Doormaal JJ,Hayden MR

    更新日期:1992-12-01 00:00:00

  • Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation.

    abstract::Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Silengo MC,Luzzatti L,Centerwall WR,Costello JM,Parslow M

    更新日期:1981-03-01 00:00:00

  • Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods.

    abstract::An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in genera...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Cohen MM Jr,Kreiborg S

    更新日期:1992-01-01 00:00:00

  • Balanced reciprocal translocations: risk factors for aneuploid segregant viability.

    abstract::Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid between (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn aneuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Davis JR,Rogers BB,Hagaman RM,Thies CA,Veomett IC

    更新日期:1985-01-01 00:00:00

  • Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

    abstract::The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smith-Magenis syndrome,...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Prasad C,Prasad AN,Chodirker BN,Lee C,Dawson AK,Jocelyn LJ,Chudley AE

    更新日期:2000-02-01 00:00:00

  • Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.

    abstract::We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Fryns JP,Verresen H,Van den Berghe H

    更新日期:1997-03-01 00:00:00

  • De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

    abstract::Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like phenotype and even nonspecific mental retardation in mal...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Kleefstra T,Yntema HG,Oudakker AR,Romein T,Sistermans E,Nillessen W,van Bokhoven H,de Vries BB,Hamel BC

    更新日期:2002-05-01 00:00:00

  • A new interstitial deletion of chromosome No. 4 del(4) (q22::q25).

    abstract::A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other lo...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Butler LJ,Palmer AV,Spencer T,Tabios-Broadway R,Wall WJ

    更新日期:1987-04-01 00:00:00