Applications of comparative genomic hybridisation in constitutional chromosome studies.

abstract：:To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myos...

journal_title：Journal of medical genetics

authors： Yu B,French JA,Jeremy RW,French P,McTaggart DR,Nicholson MR,Semsarian C,Richmond DR,Trent RJ

更新日期：1998-03-01 00:00:00

abstract：BACKGROUND:Subtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. Previous reports have estimated an overall abnormality rate of 6%, with a range of 2-29% because of different inclusion criteria. ME...

journal_title：Journal of medical genetics

authors： Ravnan JB,Tepperberg JH,Papenhausen P,Lamb AN,Hedrick J,Eash D,Ledbetter DH,Martin CL

更新日期：2006-06-01 00:00:00

abstract：:Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib ...

journal_title：Journal of medical genetics

authors： David TJ,Glass A

更新日期：1983-12-01 00:00:00

abstract：:Late onset Huntington's disease is characterised by onset of symptoms after the age of 50 and is usually associated with a milder course. We have analysed the CAG trinucleotide repeat within the HD gene in 133 late onset patients from 107 extended families. The median upper allele size for the CAG repeat was 42 with a...

journal_title：Journal of medical genetics

authors： Kremer B,Squitieri F,Telenius H,Andrew SE,Theilmann J,Spence N,Goldberg YP,Hayden MR

更新日期：1993-12-01 00:00:00

abstract：:We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly. ...

journal_title：Journal of medical genetics

authors： Young ID,Madders DJ

更新日期：1987-11-01 00:00:00

abstract：:The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classifie...

journal_title：Journal of medical genetics

authors： Passos-Bueno MR,Richard I,Vainzof M,Fougerousse F,Weissenbach J,Broux O,Cohen D,Akiyama J,Marie SK,Carvalho AA

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparen...

journal_title：Journal of medical genetics

authors： Yeung KS,Ho MSP,Lee SL,Kan ASY,Chan KYK,Tang MHY,Mak CCY,Leung GKC,So PL,Pfundt R,Marshall CR,Scherer SW,Choufani S,Weksberg R,Hon-Yin Chung B

更新日期：2018-12-01 00:00:00

abstract：OBJECTIVE:To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland. DESIGN:Systematic review of published reports fol...

journal_title：Journal of medical genetics

authors： Campbell H,Bradshaw N,Davidson R,Dean J,Goudie D,Holloway S,Porteous M

更新日期：2000-09-01 00:00:00

abstract：:A two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the c...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Wallace AJ,Evans DG

更新日期：1997-11-01 00:00:00

abstract：:A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion. ...

journal_title：Journal of medical genetics

authors： de Pablo CE,García Sagredo JM,Ferro MT,Ferrando P,San Román C

更新日期：1980-12-01 00:00:00

abstract：:Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D409H...

journal_title：Journal of medical genetics

authors： Chabás A,Gort L,Montfort M,Castelló F,Domínguez MC,Grinberg D,Vilageliu L

更新日期：1998-09-01 00:00:00

abstract：:Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Ph...

journal_title：Journal of medical genetics

authors： Lossi AM,Laugier-Anfossi F,Depetris D,Gecz J,Gedeon A,Kooy F,Schwartz C,Mattei MG,Croquette MF,Villard L

更新日期：2002-02-01 00:00:00

abstract：BACKGROUND:Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS:We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynt...

journal_title：Journal of medical genetics

authors： Bugiani M,Tiranti V,Farina L,Uziel G,Zeviani M

更新日期：2005-05-01 00:00:00

abstract：BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...

journal_title：Journal of medical genetics

authors： Lu C,Zhang Y,Qin Y,Xu Q,Zhou R,Cui Y,Zhu Y,Zhang X,Zhang J,Wei X,Wang M,Hang B,Mao JH,Snijders AM,Liu M,Hu Z,Shen H,Zhou Z,Guo X,Wu X,Wang X,Xia Y

更新日期：2021-01-01 00:00:00

abstract：:A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition. ...

journal_title：Journal of medical genetics

authors： van Haeringen A,Hurst JA,Savidge R,Baraitser M

更新日期：1990-02-01 00:00:00

abstract：:The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...

journal_title：Journal of medical genetics

authors： Schindler AM,Csank-Brassert J

更新日期：1978-06-01 00:00:00

abstract：:We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial...

journal_title：Journal of medical genetics

authors： Pivnick EK,Velagaleti GV,Wilroy RS,Smith ME,Rose SR,Tipton RE,Tharapel AT

更新日期：1996-09-01 00:00:00

abstract：BACKGROUND:The melanocortin-4-receptor gene (MC4R) is part of the melanocortinergic pathway that controls energy homeostasis. In a recent meta-analysis, the MC4R V103I (rs2229616) polymorphism was shown to be associated with body weight regulation. Although no functional differences between the isoleucine comprising re...

journal_title：Journal of medical genetics

authors： Heid IM,Vollmert C,Hinney A,Döring A,Geller F,Löwel H,Wichmann HE,Illig T,Hebebrand J,Kronenberg F,KORA Group.

更新日期：2005-04-01 00:00:00

abstract：:X inactivation studies have been carried out on 22 pairs of female monozygotic twins, one set of female monozygotic triplets, and their mothers and singleton sisters, using the probe M27 beta. Forty-eight per cent of the twins, 55% of their mothers, and 42% of their singleton sisters showed skewed X inactivation. Two ...

journal_title：Journal of medical genetics

authors： Watkiss E,Webb T,Rysiecki G,Girdler N,Hewett E,Bundey S

更新日期：1994-10-01 00:00:00

abstract：BACKGROUND:The diagnosis of calpainopathy is obtained by identifying calpain-3 protein deficiency or CAPN3 gene mutations. However, in many patients with limb girdle muscular dystrophy type 2A (LGMD2A), the calpain-3 protein quantity is normal because loss-of-function mutations cause its enzymatic inactivation. The ide...

journal_title：Journal of medical genetics

authors： Fanin M,Nascimbeni AC,Angelini C

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences. METHODS:Genotype based linkage disequilibrium analysis was conducted using the family based association test (FB...

journal_title：Journal of medical genetics

authors： Warrington A,Vieira AR,Christensen K,Orioli IM,Castilla EE,Romitti PA,Murray JC

更新日期：2006-06-01 00:00:00

abstract：BACKGROUND:Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the en...

journal_title：Journal of medical genetics

authors： Rouzier C,Le Guédard-Méreuze S,Fragaki K,Serre V,Miro J,Tuffery-Giraud S,Chaussenot A,Bannwarth S,Caruba C,Ostergaard E,Pellissier JF,Richelme C,Espil C,Chabrol B,Paquis-Flucklinger V

更新日期：2010-10-01 00:00:00

abstract：BACKGROUND:Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic ne...

journal_title：Journal of medical genetics

authors： Edvardson S,Porcelli V,Jalas C,Soiferman D,Kellner Y,Shaag A,Korman SH,Pierri CL,Scarcia P,Fraenkel ND,Segel R,Schechter A,Frumkin A,Pines O,Saada A,Palmieri L,Elpeleg O

更新日期：2013-04-01 00:00:00

abstract：:The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-->C) mutation was found to be present in 66%, while six other allel...

journal_title：Journal of medical genetics

authors： Quaife R,al-Gazali L,Abbes S,Fitzgerald P,Fitches A,Valler D,Old JM

更新日期：1994-01-01 00:00:00

abstract：:This paper describes a genetically male infant with impaired male sex development and partial 9p monosomy. The external genitalia were ambiguous with microphallus (penile length at birth 10 mm, mean age matched normal length 29 mm (SD 5)), hypospadias, and hypoplastic scrotum. The tests were undescended and severely h...

journal_title：Journal of medical genetics

authors： Ogata T,Muroya K,Matsuo N,Hata J,Fukushima Y,Suzuki Y

更新日期：1997-04-01 00:00:00

abstract：:We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain. ...

journal_title：Journal of medical genetics

authors： Vigneron J,Stricker M,Vert P,Rousselot JM,Levy M

更新日期：1991-09-01 00:00:00

abstract：:A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia interm...

journal_title：Journal of medical genetics

authors： Zago MA,Costa FF,Bottura C

更新日期：1982-12-01 00:00:00

abstract：:Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. A...

journal_title：Journal of medical genetics

authors： Meijers-Heijboer EJ,Sandkuijl LA,Brunner HG,Smeets HJ,Hoogeboom AJ,Deelen WH,van Hemel JO,Nelen MR,Smeets DF,Niermeijer MF

更新日期：1992-12-01 00:00:00

abstract：BACKGROUND:Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. METHODS:The authors performed neurological and developmental examinations on the ...

journal_title：Journal of medical genetics

authors： Zivony-Elboum Y,Westbroek W,Kfir N,Savitzki D,Shoval Y,Bloom A,Rod R,Khayat M,Gross B,Samri W,Cohen H,Sonkin V,Freidman T,Geiger D,Fattal-Valevski A,Anikster Y,Waters AM,Kleta R,Falik-Zaccai TC

更新日期：2012-07-01 00:00:00

abstract：:The development of inexpensive high throughput methods to identify individual DNA sequence differences is important to the future growth of medical genetics. This has become increasingly apparent as epidemiologists, pathologists, and clinical geneticists focus more attention on the molecular basis of complex multifact...

journal_title：Journal of medical genetics

authors： Hacia JG,Collins FS

更新日期：1999-10-01 00:00:00