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


: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 Lyonisation in fragile-X heterozygotes is that it reduces the level of expression of the fragile site. Results obtained by this method will be biased if the suppression occurs preferentially in either the active or the inactive X chromosome. To confirm that BUdR does not preferentially cause repair of the fragile site on either the late or the early replicating X chromosome, a comparison was made between the percentage of active or early fragile-X obtained using BUdR, and that obtained using tritiated thymidine in cells from the same heterozygote.


Clin Genet


Clinical genetics


Tuckerman E,Webb T




Has Abstract


1989-07-01 00:00:00












  • Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

    abstract::The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome-like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. Subsequent mutation analysis by denaturing high-performance liquid chromatography of MECP2 and CDKL5 genes revealed heteroz...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Nectoux J,Heron D,Tallot M,Chelly J,Bienvenu T

    更新日期:2006-07-01 00:00:00

  • Chromosome imbalances in syndromic hearing loss.

    abstract::The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were det...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Catelani AL,Krepischi AC,Kim CA,Kok F,Otto PA,Auricchio MT,Mazzeu JF,Uehara DT,Costa SS,Knijnenburg J,Tabith A Jr,Vianna-Morgante AM,Mingroni-Netto RC,Rosenberg C

    更新日期:2009-11-01 00:00:00

  • 46,X,i(Xq)/45,X mosaicism with gonadal dysgenesis associated with 21p-.

    abstract::This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possess...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Gaál M,Tóth A,Bösze P,László J

    更新日期:1984-01-01 00:00:00

  • Death in CHARGE syndrome after the neonatal period.

    abstract::CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adol...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Bergman JE,Blake KD,Bakker MK,du Marchie Sarvaas GJ,Free RH,van Ravenswaaij-Arts CM

    更新日期:2010-03-01 00:00:00

  • Recurrent trisomy 21: four cases in three generations.

    abstract::Recurrent trisomy 21: four cases in three generations. While gonadal mosaicism can lead to recurrence of trisomy 21 (T21) for a single couple, the recurrence of free T21 in multiple members of a single pedigree has rarely been reported. We present an unusual pedigree with four cases of Down syndrome (DS) with free T21...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Gair JL,Arbour L,Rupps R,Jiang R,Bruyère H,Robinson WP

    更新日期:2005-11-01 00:00:00

  • Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.

    abstract::4-Methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside was synthesized and tested as a substrate for the diagnosis of GM2 gangliosidoses using leukocytes. Less than 2% of normal activity was measured in homogenates from patients with typical Tay-Sachs disease and from a patient with a variant form hav...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Inui K,Wenger DA

    更新日期:1984-10-01 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

  • Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis.

    abstract::The cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis is reported. G-banded chromosomes of cultured peripheral blood lymphocytes of one subject had a constitutional chromosomal translocation, t(7;13)(p22;q21). No constitutional chromosome abnormality was found in any of the other 22 Japan...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Kaneko K,Saito F,Sunohara N,Ikeuchi T

    更新日期:1995-03-01 00:00:00

  • Chromosomal microarray impacts clinical management.

    abstract::Chromosomal microarray analysis (CMA) is standard of care, first-tier clinical testing for detection of genomic copy number variation among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied. We surveyed geneti...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Riggs ER,Wain KE,Riethmaier D,Smith-Packard B,Faucett WA,Hoppman N,Thorland EC,Patel VC,Miller DT

    更新日期:2014-02-01 00:00:00

  • Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.

    abstract::Complex chromosomal rearrangements (CCRs) are rare findings in clinical cytogenetics. As a result of the high risk of unbalanced segregation, familial cases are even rarer and maternal transmission occurs more frequently than paternal transmission. Analogous to Drosophila and mice, as well as to CCRs involving the Y c...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Grossmann V,Höckner M,Karmous-Benailly H,Liang D,Puttinger R,Quadrelli R,Röthlisberger B,Huber A,Wu L,Spreiz A,Fauth C,Erdel M,Zschocke J,Utermann G,Kotzot D

    更新日期:2010-12-01 00:00:00

  • Elevated levels of alfa fetoprotein in maternal serum and amniotic fluid in two cases of spina bifida.

    abstract::Therapeutic abortions were performed in two cases of spina bifida which were diagnosed by determination of the lafa fetoprotein levels in the amniotic fluid and maternal serum. ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Malmqvist E,Lindsten J,Nøorgaard-Pedersen B,Hellström B,Sundberg B

    更新日期:1975-02-01 00:00:00

  • Detection of inborn errors of metabolism. IV. Galactokinase deficiency.

    abstract::Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA-insoluble material under normal conditions of incubat...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Hill HZ

    更新日期:1975-09-01 00:00:00

  • Chromosomal constitution of infertile men.

    abstract::Mitotic chromosome analyses performed on 820 infertile men revealed 60 (7.3%) men with some kind of chromosomal abnormality. Sex chromosomal abnormalities were detected in 28 (3.4%) and autosomal translocations in 9 (1.0%). Pericentric inversions of chromosome 9, with possible adverse effect on reproduction, was found...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Mićić M,Mićić S,Diklić V

    更新日期:1984-01-01 00:00:00

  • Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

    abstract::Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases not only the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indica...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Nguyen K,Putoux A,Busa T,Cordier MP,Sigaudy S,Till M,Chabrol B,Michel-Calemard L,Bernard R,Julia S,Malzac P,Labalme A,Missirian C,Edery P,Popovici C,Philip N,Sanlaville D

    更新日期:2015-05-01 00:00:00

  • Variations in high-density lipoprotein cholesterol in relation to physical activity and Taq 1B polymorphism of the cholesteryl ester transfer protein gene.

    abstract::The aim of the study was to determine any association of physical activity and Taq 1B polymorphism in the cholesteryl ester transfer protein gene on high-density lipoprotein (HDL) cholesterol. Five hundred and four subjects, 390 males and 114 females consisting of an equal number of age- and sex-matched healthy contro...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Mukherjee M,Shetty KR

    更新日期:2004-05-01 00:00:00

  • beta-Galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis.

    abstract::Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gangliosidosis is based on a different gene mutation than is present in t...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Koster JF,Niermeijer MF,Loonen MC,Gajaard H

    更新日期:1976-04-01 00:00:00

  • FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.

    abstract::The forkhead, Fox, gene family comprises a diverse group of 'winged-helix' transcription factors that play important roles in development, metabolism, cancer and aging. Recently, several forkhead genes have been demonstrated to play critical roles in lymphocyte development and effector functions. Alterations of the FO...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Amorosi S,D'Armiento M,Calcagno G,Russo I,Adriani M,Christiano AM,Weiner L,Brissette JL,Pignata C

    更新日期:2008-04-01 00:00:00

  • Twenty-five novel mutations including duplications in the ATP7A gene.

    abstract::Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childh...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Moizard MP,Ronce N,Blesson S,Bieth E,Burglen L,Mignot C,Mortemousque I,Marmin N,Dessay B,Danesino C,Feillet F,Castelnau P,Toutain A,Moraine C,Raynaud M

    更新日期:2011-03-01 00:00:00

  • Clinical phenotype associated with terminal 2q37 deletion.

    abstract::Three children with deletions of the terminal portion of the long arm of chromosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac ano...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Conrad B,Dewald G,Christensen E,Lopez M,Higgins J,Pierpont ME

    更新日期:1995-09-01 00:00:00

  • Genetics of human isolated hereditary hair loss disorders.

    abstract::Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, includ...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Basit S,Khan S,Ahmad W

    更新日期:2015-09-01 00:00:00

  • Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function.

    abstract::Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement o...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Panneman DM,Smeitink JA,Rodenburg RJ

    更新日期:2018-05-01 00:00:00

  • Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas.

    abstract::This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Riccardi VM,Hittner HM,Francke U,Pippin S,Holmquist GP,Kretzer FL,Ferrell R

    更新日期:1979-04-01 00:00:00

  • X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.

    abstract::Hereditary spastic paraplegia (HSP) is rarely inherited in an X-linked recessive mode in pure and complicated forms. Recently, molecular linkage studies have suggested that these variant X-linked HSP conditions result from locus heterogeneity. In this paper we report on the clinical and linkage analysis of a kindred w...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Goldblatt J,Ballo R,Sachs B,Moosa A

    更新日期:1989-02-01 00:00:00

  • Attitudes and beliefs concerning prostate cancer genetic screening.

    abstract::This quantitative study determines the values, beliefs, and attitudes influencing the intention of men to undergo or defer genetic testing for prostate cancer risk using a model based on components of the Theory of Reasoned Action and Health Belief Model. Telephone interviews of a community sample of 400 men in a larg...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Doukas DJ,Localio AR,Li Y

    更新日期:2004-11-01 00:00:00

  • Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe.

    abstract::A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 i...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Meguid NA,Habibian R

    更新日期:1992-05-01 00:00:00

  • Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.

    abstract::Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the asso...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Orenstein N,Weiss K,Oprescu SN,Shapira R,Kidron D,Vanagaite-Basel L,Antonellis A,Muenke M

    更新日期:2017-06-01 00:00:00

  • Analysis of a familial 15p + polymorphism: exclusion of Y/15 translocation.

    abstract::A large 15p + chromosome with a whole heterochromatic short arm has been studied by means of different banding techniques in six of nine individuals of a family; a possible Y/15 translocation has been excluded. Furthermore a heteromorphic pair 9 has been observed in seven family members, representing a "possible" smal...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Werner W,Herrmann FH

    更新日期:1984-09-01 00:00:00

  • Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure.

    abstract::Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Zhang Z,Mu J,Zhao J,Zhou Z,Chen B,Wu L,Yan Z,Wang W,Zhao L,Dong J,Sun X,Kuang Y,Li B,Wang L,Sang Q

    更新日期:2019-04-01 00:00:00

  • What can we learn from old microdeletion syndromes using array-CGH screening?

    abstract::Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes but also to the recognition of a broader spec...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Mosca-Boidron AL,Bouquillon S,Faivre L,Callier P,Andrieux J,Marle N,Bonnet C,Vincent-Delorme C,Berri M,Plessis G,Manouvrier-Hanu S,Dieux-Coeslier A,Thauvin-Robinet C,Pipiras E,Delahaye A,Payet M,Ragon C,Masurel-Paulet A

    更新日期:2012-07-01 00:00:00

  • Interdependent effect of angiotensin-converting enzyme and platelet-activating factor acetylhydrolase gene polymorphisms on the progression of immunoglobulin A nephropathy.

    abstract::In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Yoon HJ,Kim H,Kim HL,Lee SG,Zheng SH,Shin JH,Lim CS,Kim S,Lee JS,Lee DS,Kim YS

    更新日期:2002-08-01 00:00:00