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_name
Hum Genetjournal_title
Human geneticsauthors
Branković S,Laća Z,Dramusić V,Ivanović M,Morić-Petrović Sdoi
10.1007/BF00273289subject
Has Abstractpub_date
1979-04-17 00:00:00pages
139-42issue
1eissn
0340-6717issn
1432-1203journal_volume
48pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390051094
更新日期:1999-09-01 00:00:00
abstract::Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286905
更新日期:1979-04-27 00:00:00
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
doi:10.1007/BF00212025
更新日期:1994-03-01 00:00:00
abstract::A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00280488
更新日期:1986-12-01 00:00:00
abstract::Familial and twin studies have shown that the individual variability of the normal human electroencephalogram (EEG) is largely genetically determined. In epileptology, these genetic parameters of the EEG background activity are almost totally neglected. The aim of the present study has been to investigate whether a sp...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210302
更新日期:1995-12-01 00:00:00
abstract::CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory ne...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0207-0
更新日期:2006-09-01 00:00:00
abstract::In order to understand the role of the insulin receptor substrate-2 (IRS2) gene (chromosome region: 13q34) in obesity, a complex disorder associated with insulin resistance and glucose intolerance, we determined single nucleotide polymorphims (SNPs) and complex haplotypes in women with morbid obesity and a body mass i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0935-3
更新日期:2003-07-01 00:00:00
abstract::Multiple linkage regions have been reported in schizophrenia, and some appear to harbor susceptibility genes that are differentially expressed in postmortem brain tissue derived from unrelated individuals. We combined traditional genome-wide linkage analysis in a multiplex family with lymphocytic genome-wide expressio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0172-7
更新日期:2006-06-01 00:00:00
abstract::A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00396480
更新日期:1978-07-12 00:00:00
abstract::By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220073
更新日期:1992-11-01 00:00:00
abstract::A highly polymorphic CA repeat was identified in a cosmid containing the 5' end of the NF2 tumour suppressor gene. This marker has proved useful in presymptomatic diagnosis in affected families. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209494
更新日期:1995-06-01 00:00:00
abstract::We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00230225
更新日期:1993-03-01 00:00:00
abstract::Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal domina...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0206-1
更新日期:2006-08-01 00:00:00
abstract::Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1254-7
更新日期:2005-07-01 00:00:00
abstract::Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00401242
更新日期:1986-07-01 00:00:00
abstract::The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become m...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00273442
更新日期:1985-01-01 00:00:00
abstract::A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorp...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00389455
更新日期:1985-01-01 00:00:00
abstract::Using dual-laser sorted chromosomes and spot-blot analysis, we have previously assigned genomic DNA sequences coding for human alpha 1 (IV) procollagen to chromosome 13 (Pihlajaniemi et al. 1985). By in situ hybridization to normal chromosomes and chromosomes with 13q deletions, we now report the localization of this ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282074
更新日期:1986-10-01 00:00:00
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
更新日期:2015-02-01 00:00:00
abstract::We ascertained three consanguineous Pakistani families (PKDF291, PKDF335 and PKDF793) segregating nonsyndromic recessive hearing loss. The hearing loss segregating in PKDF335 and PKDF793 is moderate to severe, whereas it is profound in PKDF291. The maximum two-point LOD scores are 3.01 (D19S1034), 3.85 (D19S894) and 3...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0418-z
更新日期:2007-12-01 00:00:00
abstract::The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293880
更新日期:1984-01-01 00:00:00
abstract::The staining properties of AT-specific dyes Hoechst 33342 and DAPI as revealed by Hoechst 33342/mithramycin and mithramycin/DAPI bivariate human flow karyotype patterns are different for chromosomes rich in heterochromatin. The peak corresponding to chromosome Y of a given cell line is higher on the A/T axis with mith...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286716
更新日期:1989-09-01 00:00:00
abstract::Lipoprotein(a) [Lp(a)] is a quantitative trait in human plasma. Lp(a) consists of a low-density lipoprotein and the plasminogen-related apolipoprotein(a) [apo(a)]. The apo(a) gene determines a size polymorphism of the protein, which is related to Lp(a) levels in plasma. In an attempt to gain a deeper insight into the ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220066
更新日期:1992-11-01 00:00:00
abstract::C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00321026
更新日期:1979-04-05 00:00:00
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
doi:10.1007/BF00284432
更新日期:1976-09-10 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::Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromo...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283634
更新日期:1978-06-09 00:00:00
abstract::An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (delta F508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206956
更新日期:1994-12-01 00:00:00
abstract::A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271579
更新日期:1979-11-01 00:00:00
abstract::The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(p...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285168
更新日期:1989-10-01 00:00:00