Cytogenetic and clinical studies in five cases of inv dup(15).

Abstract:

:Inv dup(15) is a clinically significant bisatellited derivative of chromosome 15. Five unrelated patients with this abnormality are described and compared with ten confirmed and nine suspected cases in the literature. Mental and developmental retardation, hypotonia, behavioral disturbances, seizures, abnormal dermatoglyphics, and mild somatic anomalies were the most consistent findings. The extra chromosomes in our patients were identified with the aid of various techniques, including distamycin A/DAPI banding. A comparison of satellite polymorphisms suggested that the rearrangements frequently arose by meiotic nonsister chromatid exchange and second-division nondisjunction. A maternal origin was indicated in two cases, and parental ages were distinctly elevated.

journal_name

Hum Genet

journal_title

Human genetics

authors

Wisniewski L,Hassold T,Heffelfinger J,Higgins JV

doi

10.1007/BF00399391

subject

Has Abstract

pub_date

1979-09-01 00:00:00

pages

259-70

issue

3

eissn

0340-6717

issn

1432-1203

journal_volume

50

pub_type

杂志文章
  • The Alu I-induced bands in metaphase chromosomes of orangutan (Pongo pygmaeus). Implications for the distribution pattern of highly repetitive DNA sequences.

    abstract::Restriction endonucleases have been recently proved to be active on fixed chromosomes, thus they are useful in chromatin structure studies. Within this class of enzymes, Alu I is able to detect the presence and localization of highly repetitive DNA sequences in human and in other mammalian and dipteran species. In thi...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00291894

    authors: De Stefano GF,Romano E,Ferrucci L

    更新日期:1986-03-01 00:00:00

  • Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).

    abstract::The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-008-0611-8

    authors: Thomas NS,Maloney V,Bryant V,Huang S,Brewer C,Lachlan K,Jacobs PA

    更新日期:2009-03-01 00:00:00

  • Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.

    abstract::Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders and occurs in its non-classical form in up to 6% of hirsute women. We report on a young woman with the clinical diagnosis of non-classical CAH and a novel, heterozygous missense mutation CTG-->...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-005-1339-3

    authors: Bojunga J,Welsch C,Antes I,Albrecht M,Lengauer T,Zeuzem S

    更新日期:2005-10-01 00:00:00

  • FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes.

    abstract::X-chromosome inactivation and the size of the CGG repeat number are assumed to play a role in the clinical, physical, and behavioral phenotype of female carriers of a mutated FMR1 allele. In view of the tight relationship between replication timing and the expression of a given DNA sequence, we have examined the repli...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004399900081

    authors: Yeshaya J,Shalgi R,Shohat M,Avivi L

    更新日期:1999-07-01 00:00:00

  • Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.

    abstract::Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs)....

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-014-1513-6

    authors: Woodbury-Smith M,Paterson AD,Thiruvahindrapduram B,Lionel AC,Marshall CR,Merico D,Fernandez BA,Duku E,Sutcliffe JS,O'Conner I,Chrysler C,Thompson A,Kellam B,Tammimies K,Walker S,Yuen RK,Uddin M,Howe JL,Parlier M,Whi

    更新日期:2015-02-01 00:00:00

  • Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome.

    abstract::A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00447289

    authors: Dallapiccola B,Bollea G,Mazzilli C,Gandini E

    更新日期:1976-07-07 00:00:00

  • Sequence of centromere separation another mechanism for the origin of nondisjunction.

    abstract::The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00286609

    authors: Vig BK

    更新日期:1984-01-01 00:00:00

  • The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis.

    abstract::To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning the CLCA gene locus on human chromosome 1p in CF patients displaying ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-004-1190-y

    authors: Ritzka M,Stanke F,Jansen S,Gruber AD,Pusch L,Woelfl S,Veeze HJ,Halley DJ,Tümmler B

    更新日期:2004-11-01 00:00:00

  • Duchenne muscular dystrophy. Frequency of sporadic cases.

    abstract::A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00291351

    authors: Danieli GA,Barbujani G

    更新日期:1984-01-01 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

    doi:10.1007/s00439-019-01995-w

    authors: Graw J

    更新日期:2019-09-01 00:00:00

  • Gene therapies in canine models for Duchenne muscular dystrophy.

    abstract::Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...

    journal_title:Human genetics

    pub_type: 杂志文章,评审

    doi:10.1007/s00439-019-01976-z

    authors: Nghiem PP,Kornegay JN

    更新日期:2019-05-01 00:00:00

  • Deletion mapping of 39 random isolated Y-chromosome DNA fragments.

    abstract::Thirty-nine recombinants isolated from a Y chromosome-specific library were deletion mapped. Seven deletion intervals were defined by hybridization of probes to DNA of eight individuals with aberrant Y chromosomes. Extreme cytogenetic limits of the deletion intervals were determined by in situ hybridization of one pro...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00193197

    authors: Oosthuizen CJ,Herbert JS,Vermaak LK,Brusnicky J,Fricke J,du Plessis L,Retief AE

    更新日期:1990-07-01 00:00:00

  • Genetic fine mapping of the gene for recessive Stargardt disease.

    abstract::Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM interval. Haplotype analysis in seven Dutch STGD families with 11 highly ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390050247

    authors: Hoyng CB,Poppelaars F,van de Pol TJ,Kremer H,Pinckers AJ,Deutman AF,Cremers FP

    更新日期:1996-10-01 00:00:00

  • "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

    abstract::A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brim...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00273310

    authors: Leschot NJ,Lim KS

    更新日期:1979-02-15 00:00:00

  • IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

    abstract::Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-018-1897-9

    authors: Chekuri A,Guru AA,Biswas P,Branham K,Borooah S,Soto-Hermida A,Hicks M,Khan NW,Matsui H,Alapati A,Raghavendra PB,Roosing S,Sarangapani S,Mathavan S,Telenti A,Heckenlively JR,Riazuddin SA,Frazer KA,Sieving PA,Ayyagari

    更新日期:2018-07-01 00:00:00

  • NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

    abstract::The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with severe NF1 showing at RT-...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-003-1009-2

    authors: Colapietro P,Gervasini C,Natacci F,Rossi L,Riva P,Larizza L

    更新日期:2003-11-01 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

    doi:10.1007/BF00291626

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

    更新日期:1978-05-16 00:00:00

  • Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

    abstract::21-hydroxylase (21-OH) deficiency accounts for the vast majority of nonclassic (NC) forms of congenital adrenal hyperplasia (CAH), and is associated with symptoms detectable either in childhood (precocious puberty) or sometimes only later in adulthood (hirsutism, acne, amenorrhea). While the severe forms of the diseas...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390050586

    authors: Blanché H,Vexiau P,Clauin S,Le Gall I,Fiet J,Mornet E,Dausset J,Bellanné-Chantelot C

    更新日期:1997-11-01 00:00:00

  • The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis.

    abstract::We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F5...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF02428281

    authors: Halley DJ,Veeze HJ,Sandkuyl LA,Wesby-van Swaay E,van Damme NH,Deelen WH,Witte JE,Niermeijer MF

    更新日期:1990-09-01 00:00:00

  • Missense mutations and the magnitude of functional deficit: the example of factor IX.

    abstract::Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00220543

    authors: Sommer SS,Bowie EJ,Ketterling RP,Bottema CD

    更新日期:1992-05-01 00:00:00

  • Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization.

    abstract::Meiotic segregation of chromosomes 14 and 21 in sperm from a 14;21 Robertsonian translocation carrier was analyzed with dual-color FISH using two locus-specific DNA probes (Tel 14q and LSI 21). The frequency of normal or chromosomally balanced sperm, resulting from alternate segregation, was 88.42%. The frequency of u...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390051027

    authors: Honda H,Miharu N,Samura O,He H,Ohama K

    更新日期:2000-02-01 00:00:00

  • Beta-thalassemia and beta[A] globin gene haplotypes in Mexican mestizos.

    abstract::B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390050395

    authors: Villalobos-Arámbula AR,Bustos R,Casas-Castañeda M,Gutiérrez E,Perea FJ,Thein SL,Ibarra B

    更新日期:1997-04-01 00:00:00

  • Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.

    abstract::A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was co...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF02272835

    authors: Jung U,Urner U,Grade K,Coutelle C

    更新日期:1994-07-01 00:00:00

  • Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.

    abstract::Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-013-1416-y

    authors: Waltes R,Duketis E,Knapp M,Anney RJ,Huguet G,Schlitt S,Jarczok TA,Sachse M,Kämpfer LM,Kleinböck T,Poustka F,Bölte S,Schmötzer G,Voran A,Huy E,Meyer J,Bourgeron T,Klauck SM,Freitag CM,Chiocchetti AG

    更新日期:2014-06-01 00:00:00

  • Bias, precision and heritability of self-reported and clinically measured height in Australian twins.

    abstract::Many studies of quantitative and disease traits in human genetics rely upon self-reported measures. Such measures are based on questionnaires or interviews and are often cheaper and more readily available than alternatives. However, the precision and potential bias cannot usually be assessed. Here we report a detailed...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-006-0240-z

    authors: Macgregor S,Cornes BK,Martin NG,Visscher PM

    更新日期:2006-11-01 00:00:00

  • Facioscapulohumeral muscular dystrophy concentrated in the village Cullar, Nevşehir, Turkey.

    abstract::In this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Cullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have genera...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00273001

    authors: Sayli BS,Yaltkaya K,Cin S

    更新日期:1984-01-01 00:00:00

  • From single biobanks to international networks: developing e-governance.

    abstract::The future holds the possibility to link and network biobanks, existing biorepositories and reference databases for research purposes in ways that have not been possible before. There is the potential to develop 'research portals' that will enable researchers to access these research resources that are located around ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-011-1063-0

    authors: Kaye J

    更新日期:2011-09-01 00:00:00

  • The 35 kd pulmonary surfactant-associated protein is encoded on chromosome 10.

    abstract::The genomic components identified by each of two closely related cDNA clones for the major 35 kilodalton non-serum surfactant-associated proteins (PSP-A) were shown to derive from human chromosome 10 by Southern blot analysis of DNAs from human-rodent somatic cell hybrids. By in situ hybridization to human metaphase c...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00283051

    authors: Bruns G,Stroh H,Veldman GM,Latt SA,Floros J

    更新日期:1987-05-01 00:00:00

  • Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations.

    abstract::Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-005-0080-2

    authors: Tsai HJ,Kho JY,Shaikh N,Choudhry S,Naqvi M,Navarro D,Matallana H,Castro R,Lilly CM,Watson HG,Meade K,Lenoir M,Thyne S,Ziv E,Burchard EG

    更新日期:2006-01-01 00:00:00

  • Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.

    abstract::Single nucleotide polymorphisms (SNPs) can significantly contribute to the characterization of the genes predisposing to iron overloads or deficiencies. We report an SNP survey of coding and non-coding regions of eight genes involved in iron metabolism, by two successive methods. First, we made use of the public domai...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390100599

    authors: Douabin-Gicquel V,Soriano N,Ferran H,Wojcik F,Palierne E,Tamim S,Jovelin T,McKie AT,Le Gall JY,David V,Mosser J

    更新日期:2001-10-01 00:00:00