Abstract:
:The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated with a rearrangement of chromosome 7, the tentative gene assignment to 7q11 being further supported; the gene is probably confiend to 7q11.23.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Naritomi K,Izumikawa Y,Ohshiro S,Yoshida K,Shimozawa N,Suzuki Y,Orii T,Hirayama Kdoi
10.1007/BF00210677subject
Has Abstractpub_date
1989-12-01 00:00:00pages
79-80issue
1eissn
0340-6717issn
1432-1203journal_volume
84pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Uterine fibroids (UFs) affect 77 % of women by menopause and account for $9.4 billion in yearly healthcare costs. We recently replicated findings from the first UF genome-wide association study (GWAS), conducted in the Japanese. Here we tested these GWAS-discovered SNPs for association with UF characteristics to furth...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1340-1
更新日期:2013-12-01 00:00:00
abstract::Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00208958
更新日期:1995-04-01 00:00:00
abstract::This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273289
更新日期:1979-04-17 00:00:00
abstract::In human females, both X chromosomes are equivalent in size and genetic content, and pairing and recombination can theoretically occur anywhere along their entire length. In human males, however, only small regions of sequence identity exist between the sex chromosomes. Recombination and genetic exchange is restricted...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF01247327
更新日期:1993-10-01 00:00:00
abstract::Male identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00304559
更新日期:1982-01-01 00:00:00
abstract::We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese po...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295371
更新日期:1985-01-01 00:00:00
abstract::SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0883-7
更新日期:2010-12-01 00:00:00
abstract::In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were performed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281077
更新日期:1987-03-01 00:00:00
abstract::This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272192
更新日期:1978-02-16 00:00:00
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
doi:10.1007/s00439-016-1702-6
更新日期:2016-11-01 00:00:00
abstract::A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278889
更新日期:1976-10-28 00:00:00
abstract::A unified nomenclature for describing voltage-gated calcium channel genes is proposed. The terminology has been approved by the HUGO/GDB nomenclature committee. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050481
更新日期:1997-08-01 00:00:00
abstract::Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respective...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0127-4
更新日期:2006-03-01 00:00:00
abstract::The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitiv...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283735
更新日期:1988-12-01 00:00:00
abstract::Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-001-0650-x
更新日期:2002-01-01 00:00:00
abstract::Pericentromeric regions of human chromosomes are preferential sites for the integration of duplicated DNA, or "duplicons", which often contain gene fragments. Although pericentromeric regions appear to be genomic junkyards, they could also be the birthplace of new genes with novel functions. We have characterized a ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0827-y
更新日期:2003-01-01 00:00:00
abstract::The functional intronless gene coding for a calmodulin-like protein (CLP) has been localized to human chromosome 10p13-ter. Chromosomal assignment was performed by Southern blot analysis of DNA from human-rodent somatic cell hybrids and amplification of a CLP gene-specific 1090-bp DNA fragment by the polymerase chain ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217447
更新日期:1993-01-01 00:00:00
abstract::As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284653
更新日期:1983-01-01 00:00:00
abstract::Chromosome analysis of G-banded cells from nine individuals showed that 9qh+ chromosomes have an extra band in the h region in approx. 3 to 50% of the cells. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278832
更新日期:1978-09-19 00:00:00
abstract::We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00212039
更新日期:1994-03-01 00:00:00
abstract::Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191806
更新日期:1995-10-01 00:00:00
abstract::Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286899
更新日期:1979-04-27 00:00:00
abstract::Pre-eclampsia is the most common serious medical disorder of human pregnancy. The human endothelial cell nitric oxide synthase (eNOS) gene is a candidate for pre-eclampsia/eclampsia (PE/E) susceptibility. A linkage study was performed on Australian PE/E families using 25 microsatellite markers from chromosome 7, one o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900172
更新日期:1999-12-01 00:00:00
abstract::The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050264
更新日期:1996-11-01 00:00:00
abstract::A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293602
更新日期:1978-08-31 00:00:00
abstract::We have studied the allele frequency distribution of the microsatellite locus DYS19 in several populations with different geographical origins worldwide. Three new alleles were found. In addition, remarkable geographic and ethnic differences were observed in the allele frequency profiles and DNA marker (gene) diversit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02185760
更新日期:1996-03-01 00:00:00
abstract::A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were classified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274002
更新日期:1989-07-01 00:00:00
abstract::The size of the heterochromatic regions of chromosomes 1 and 16 was measured in a Test group of women with histories of recurrent spontaneous abortion and a Control group of fertile women. Measurements were made on Giemsa banded preparations and the euchromatic regions of 1q and 16q were used to correct for between-ce...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285399
更新日期:1983-01-01 00:00:00
abstract::During the 8 year-period 1971-1978 inclusive, 268 newborn with Down's syndrome (DS) were ascertained in Wallonia (South Belgium). The chromosomes of all patients were analyzed. A standard trisomy 21 was observed in 259 cases (96.6%) and translocations in seven (2.6%). One mosaic (0.4%) and one case with a 47,XX,+21,5 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278979
更新日期:1980-01-01 00:00:00
abstract::The gene for human interleukin 7 (IL7) maps to chromosome 8 by Southern analysis of a somatic cell hybrid panel and to 8q12-q13 by in situ hybridization. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274000
更新日期:1989-07-01 00:00:00