Abstract:
:A neonate with clinical features of the 11q23 deletion syndrome was apparently mosaic with the dominant cell line showing deletion of the chromosomal segment 11q23.3 to 11qter. The presence of a few lymphocytes with a normal karyotype indicates post-zygotic deletion of chromosome 11. The mother and brother of the propositus show folate-sensitive fragility at band 11q23.3. This case indicates in vivo deletion at a folate-sensitive fragile site.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Voullaire LE,Webb GC,Leversha MAdoi
10.1007/BF00284923subject
Has Abstractpub_date
1987-06-01 00:00:00pages
202-4issue
2eissn
0340-6717issn
1432-1203journal_volume
76pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050634
更新日期:1997-12-01 00:00:00
abstract::The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00215678
更新日期:1992-02-01 00:00:00
abstract::A series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of five somatic cell hybrids. Restri...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00200562
更新日期:1990-02-01 00:00:00
abstract::The use of two genomic EcoRI fragments as probes is discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291180
更新日期:1989-06-01 00:00:00
abstract::Recently, a mutation at nucleotide 1193 of the glucocerebrosidase gene was described in a patient with type 1 Gaucher disease. This mutation destroys a TaqI site in a polymerase chain reaction (PCR)-amplified fragment. We used digestion with this enzyme to screen DNA samples from Gaucher disease patients representing ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210614
更新日期:1994-02-01 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::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
更新日期:2005-10-01 00:00:00
abstract::Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gonadotropins (FSH>40 U/L) occurring before the age of 40 years. Recent studies have elucidated the role of oocyte derived growth factors (BMP15 and GDF9) in maintenance of folliculogenesis, granulosa cell (GC) proliferatio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0150-0
更新日期:2006-05-01 00:00:00
abstract::The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282821
更新日期:1981-01-01 00:00:00
abstract::The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene clusters, which are under the control of an imprinting center (IC). The paternally expressed SNURF-SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene, which is encoded on the opposite strand, expressed - at least in br...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1104-z
更新日期:2004-05-01 00:00:00
abstract::Various genetic loci harboring oncogenes, tumor suppressor genes, and genes for calcium receptors have been implicated in the development of parathyroid tumors. We have carried out loss of heterozygosity (LOH) studies in chromosomes 1p, 1q, 3q, 6q, 11q, 13q, 15q, and X in a total of 89 benign parathyroid tumors. Of th...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050369
更新日期:1997-03-01 00:00:00
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
更新日期:1987-05-01 00:00:00
abstract::Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geog...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278978
更新日期:1980-01-01 00:00:00
abstract::In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282555
更新日期:1986-11-01 00:00:00
abstract::Using the polymerase chain reaction, a sequence comprising 400bp of the human ZFY gene was amplified specifically in the male. The method allows detection of the presence of the ZFY gene in the order of 1:10(4) cells. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291174
更新日期:1989-06-01 00:00:00
abstract::Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conduct...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1274-7
更新日期:2013-06-01 00:00:00
abstract::Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278823
更新日期:1986-01-01 00:00:00
abstract::The largest class of de novo chromosomal rearrangements in Down syndrome are rea(21q21q). Classically, these rearrangements have been termed Robertsonian translocations, implying an attachment of two different chromosome 21 homologues. Additionally, a Robertsonian translocation between two chromosomes 21 cannot be dis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201838
更新日期:1991-02-01 00:00:00
abstract::An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293878
更新日期:1984-01-01 00:00:00
abstract::The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702867
更新日期:1988-10-01 00:00:00
abstract::Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the high resolution map...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000287
更新日期:2000-05-01 00:00:00
abstract::Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0366-7
更新日期:2007-07-01 00:00:00
abstract::Given that a large number of candidate genes coding for a tendency toward obesity have been identified and some findings have been replicated, we explored characteristics of those who would be most likely to obtain future genetic testing for this tendency. During a series of focus groups, obese respondents rated their...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0252-8
更新日期:2007-01-01 00:00:00
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
更新日期:1990-09-01 00:00:00
abstract::A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273485
更新日期:1980-02-01 00:00:00
abstract::Neurofibromatosis type 1 (NF1) is a common inherited disease affecting one in 3,500 individuals. The mutation rate in the NF1 gene is one of the highest known for human genes. Compared to other methods, the protein truncation test (PTT) and subsequent sequence analysis of cloned cDNA provides improved efficiency in de...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390051043
更新日期:2000-03-01 00:00:00
abstract::Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1287-y
更新日期:2005-07-01 00:00:00
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
doi:10.1007/BF00220536
更新日期:1992-05-01 00:00:00
abstract::The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A two-point linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was constru...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF01213101
更新日期:1991-05-01 00:00:00
abstract::Genetic polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1056-8
更新日期:2004-02-01 00:00:00