A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.


:A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)).


Hum Genet


Human genetics


Zabel B,Hansen S,Hilig U,Gröting-Imhof H




Has Abstract


1977-04-07 00:00:00












  • New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy.

    abstract::During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Beck M

    更新日期:2007-03-01 00:00:00

  • A balanced translocation t(11;16)(q13;p11), a cytogenetic study and an attempt at gene localization.

    abstract::Members of three generations of a single family were examined and found to have a balanced translocation t(11;16)(q13;p11). Cytogenetic investigation and investigation of a number of gene markers is consistent with the current view that the Hp-alpha locus is situated in the proximity of band 16q22. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Gerner-Smidt P,Friedrich U,Petersen GB,Tischfield JA

    更新日期:1978-05-16 00:00:00

  • The genetic architecture of morphological abnormalities of the sperm tail.

    abstract::Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Touré A,Martinez G,Kherraf ZE,Cazin C,Beurois J,Arnoult C,Ray PF,Coutton C

    更新日期:2020-01-16 00:00:00

  • The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

    abstract::The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. ...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Sagi-Dain L,Goldberg Y,Peleg A,Sukenik-Halevy R,Sofrin-Drucker E,Appelman Z,Josefsberg BYS,Ben-Shachar S,Vinkler C,Basel-Salmon L,Maya I

    更新日期:2019-10-01 00:00:00

  • Four new haplotypes observed in Algerian beta-thalassemia patients.

    abstract::beta-Thalassemia, a heterogeneous group of human anemias affecting the expression of beta-globin, is caused by a number of molecular defects. Restriction endonuclease mapping of ethnic populations has revealed many polymorphisms within and around the beta-like globin genes, combinations of which are assigned as haplot...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Beldjord C,Lapouméroulie C,Baird ML,Girot R,Adjrad L,Lenoir G,Benabadji M,Labie D

    更新日期:1983-01-01 00:00:00

  • Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.

    abstract::We report clinical and molecular findings in 15 Japanese mosaic females with r(X) chromosomes, 45,X/46,X,r(X), confirmed by fluorescence in situ hybridization (FISH) analysis for DXZ1 and whole X chromosome painting. Cases 1-3, 5-7, and 11-13 had mental retardation (MR), the remaining cases being free from MR. FISH an...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Matsuo M,Muroya K,Adachi M,Tachibana K,Asakura Y,Nakagomi Y,Hanaki K,Yokoya S,Yoshizawa A,Igarashi Y,Hanew K,Matsuo N,Ogata T

    更新日期:2000-11-01 00:00:00

  • A response to "Personalised medicine and population health: breast and ovarian cancer".

    abstract:: ...

    journal_title:Human genetics

    pub_type: 信件


    authors: Antoniou A,Anton-Culver H,Borowsky A,Broeders M,Brooks J,Chiarelli A,Chiquette J,Cuzick J,Delaloge S,Devilee P,Dorval M,Easton D,Eisen A,Eklund M,Eloy L,Esserman L,Garcia-Closas M,Goldgar D,Hall P,Knoppers BM,Kraf

    更新日期:2019-03-01 00:00:00

  • Functional polymorphisms in NFκB1/IκBα predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese.

    abstract::Lung inflammation is the major pathogenetic feature for both chronic obstructive pulmonary disease (COPD) and lung cancer. The nuclear factor-kappa B (NFκB) and its inhibitor (IκB) play crucial roles in inflammatory. Here, we tested the hypothesis that single nucleotide polymorphisms (SNPs) in NFκB/IκB confer consiste...

    journal_title:Human genetics

    pub_type: 临床试验,杂志文章


    authors: Huang D,Yang L,Liu Y,Zhou Y,Guo Y,Pan M,Wang Y,Tan Y,Zhong H,Hu M,Lu W,Ji W,Wang J,Ran P,Zhong N,Zhou Y,Lu J

    更新日期:2013-04-01 00:00:00

  • The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

    abstract::Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic fo...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Vandewalle J,Bauters M,Van Esch H,Belet S,Verbeeck J,Fieremans N,Holvoet M,Vento J,Spreiz A,Kotzot D,Haberlandt E,Rosenfeld J,Andrieux J,Delobel B,Dehouck MB,Devriendt K,Fryns JP,Marynen P,Goldstein A,Froyen G

    更新日期:2013-10-01 00:00:00

  • Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation.

    abstract::We have analysed the spread of X inactivation in an individual with an unbalanced 46,X,der(X)t(X;10)(q26.3;q23.3) karyotype. Despite being trisomic for the region 10q23.3-qter, both the proband and her aunt with the same karyotype presented only with secondary amenorrhoea and lacked any features normally associated wi...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Sharp A,Robinson DO,Jacobs P

    更新日期:2001-09-01 00:00:00

  • Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility.

    abstract::Multiple sclerosis (MS) is characterized as an autoimmune demyelinating disease. Numerous family studies have confirmed a strong genetic component underlying its etiology. After several decades of frustrating research, the advent and application of affordable genotyping of dense SNP maps in large data sets has ushered...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Zuvich RL,McCauley JL,Oksenberg JR,Sawcer SJ,De Jager PL,International Multiple Sclerosis Genetics Consortium.,Aubin C,Cross AH,Piccio L,Aggarwal NT,Evans D,Hafler DA,Compston A,Hauser SL,Pericak-Vance MA,Haines JL

    更新日期:2010-03-01 00:00:00

  • Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.

    abstract::Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Ferguson-Smith MA,Aitken DA,Turleau C,de Grouchy J

    更新日期:1976-09-10 00:00:00

  • Variability in allelic DNA methylation in spermatozoa.

    abstract::In certain segments of human DNA, the methylation of deoxycytidine residues has been found to be highly specific and interindividually conserved. Imprinted DNA sequences in diploid primary cells show allele-specific differences in DNA methylation, usually with the active chromosomal regions being unmethylated and the ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Kochanek S,Renz D,Doerfler W

    更新日期:1994-08-01 00:00:00

  • Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein.

    abstract::Reciprocal probing has been used to identify a cDNA clone (xh8H11) representing a gene preferentially expressed in striated muscle. The gene maps close to DXS7101 31.9 cM from the short arm telomere of the X-chromosome at Xp22.1. On searching expressed and genomic databases, 21 expressed sequence tags were found that ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Patzak D,Zhuchenko O,Lee CC,Wehnert M

    更新日期:1999-11-01 00:00:00

  • Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).

    abstract::We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Rowe PS,Goulding J,Read A,Lehrach H,Francis F,Hanauer A,Oudet C,Biancalana V,Kooh SW,Davies KE

    更新日期:1994-03-01 00:00:00

  • BglII RFLP in DXS 498 between the pigment gene repeat unit, RCP and GCP.

    abstract::The red (RCP) and green (GCP) color pigment genes are located in Xq28, a chromosomal region implicated in many genetic disorders. The restriction fragment length polymorphism (RFLP) we describe here will be useful for linkage analysis in these disorders. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Vits L,Willems PJ

    更新日期:1992-11-01 00:00:00

  • Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood.

    abstract::Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of ch...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Jenderny J,Köster E,Meyer A,Borchers O,Grote W,Harms D,Jänig U

    更新日期:1995-12-01 00:00:00

  • Mouse models for microphthalmia, anophthalmia and cataracts.

    abstract::Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia,...

    journal_title:Human genetics

    pub_type: 杂志文章,评审


    authors: Graw J

    更新日期:2019-09-01 00:00:00

  • Trisomy 6 associated with aplastic anemia.

    abstract::A clone with 47 chromosomes was observed in the bone marrow of a patient with aplastic anemia and found to be trisomic for chromosome 6. The abnormal clone was not observed in the peripheral blood. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Geraedts JP,Haak HL

    更新日期:1976-12-29 00:00:00

  • Whole-genome sequencing in French Canadians from Quebec.

    abstract::Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Low-Kam C,Rhainds D,Lo KS,Provost S,Mongrain I,Dubois A,Perreault S,Robinson JF,Hegele RA,Dubé MP,Tardif JC,Lettre G

    更新日期:2016-11-01 00:00:00

  • Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).

    abstract::Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms an...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Malcolm S,de Saint Basile G,Arveiler B,Lau YL,Szabo P,Fischer A,Griscelli C,Debre M,Mandel JL,Callard RE

    更新日期:1987-10-01 00:00:00

  • A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.

    abstract::We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Kuribayashi F,de Boer M,Leusen JH,Verhoeven AJ,Roos D

    更新日期:1996-05-01 00:00:00

  • Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

    abstract::Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys)...

    journal_title:Human genetics

    pub_type: 临床试验,杂志文章


    authors: Basel-Vanagaite L,Smirin-Yosef P,Essakow JL,Tzur S,Lagovsky I,Maya I,Pasmanik-Chor M,Yeheskel A,Konen O,Orenstein N,Weisz Hubshman M,Drasinover V,Magal N,Peretz Amit G,Zalzstein Y,Zeharia A,Shohat M,Straussberg R,Mont

    更新日期:2015-06-01 00:00:00

  • Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

    abstract::We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Crane AM,Martin LS,Valle D,Ledley FD

    更新日期:1992-05-01 00:00:00

  • Molecular characterization of HbH disease in the Cuban population.

    abstract::Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Martinez G,Ferreira R,Hernandez A,Di Rienzo A,Felicetti L,Colombo B

    更新日期:1986-04-01 00:00:00

  • Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation.

    abstract::X chromosome inactivation results in dosage equivalency for X-linked gene expression between males and females. However, some X-linked genes show variable X inactivation, being expressed from the inactive X in some females but subject to inactivation in other women. The human tissue inhibitor of metalloproteinases-1 (...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Anderson CL,Brown CJ

    更新日期:2002-03-01 00:00:00

  • A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

    abstract::Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein comple...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Ebermann I,Scholl HP,Charbel Issa P,Becirovic E,Lamprecht J,Jurklies B,Millán JM,Aller E,Mitter D,Bolz H

    更新日期:2007-04-01 00:00:00

  • Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

    abstract::Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Wesdorp M,de Koning Gans PAM,Schraders M,Oostrik J,Huynen MA,Venselaar H,Beynon AJ,van Gaalen J,Piai V,Voermans N,van Rossum MM,Hartel BP,Lelieveld SH,Wiel L,Verbist B,Rotteveel LJ,van Dooren MF,Lichtner P,Kunst HPM,

    更新日期:2018-05-01 00:00:00

  • A highly polymorphic locus on chromosome 16q revealed by a probe from a chromosome-specific cosmid library.

    abstract::A cosmid library was constructed from genomic DNA of a human-mouse somatic cell hybrid containing an 11q-16q translocation chromosome as the only human DNA. Cosmids with human inserts were prehybridized with total human DNA and were screened to find probes that revealed highly polymorphic loci. From one such cosmid, C...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Bufton L,Mohandas TK,Magenis RE,Sheehy R,Bestwick RK,Litt M

    更新日期:1986-12-01 00:00:00

  • Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation.

    abstract::Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In ...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Isozumi K,DeLong R,Kaplan J,Hung WY,Siddique T

    更新日期:1997-06-01 00:00:00