Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

abstract：:A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...

journal_title：Journal of medical genetics

authors： Yatziv S,Epstein CJ

更新日期：1977-12-01 00:00:00

abstract：:Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms...

journal_title：Journal of medical genetics

authors： Margarit E,Soler A,Carrió A,Oliva R,Costa D,Vendrell T,Rosell J,Ballesta F

更新日期：1998-09-01 00:00:00

abstract：:VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo...

journal_title：Journal of medical genetics

authors： Chen Y,Liu Z,Chen J,Zuo Y,Liu S,Chen W,Liu G,Qiu G,Giampietro PF,Wu N,Wu Z

更新日期：2016-07-01 00:00:00

abstract：:In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ikeda S,Hanyu N,Takeda S,Yanagisawa N

更新日期：1998-01-01 00:00:00

abstract：:We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the pati...

journal_title：Journal of medical genetics

authors： Ryan AK,Goodship JA,Wilson DI,Philip N,Levy A,Seidel H,Schuffenhauer S,Oechsler H,Belohradsky B,Prieur M,Aurias A,Raymond FL,Clayton-Smith J,Hatchwell E,McKeown C,Beemer FA,Dallapiccola B,Novelli G,Hurst JA,Ignatius

更新日期：1997-10-01 00:00:00

abstract：:Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420. T...

journal_title：Journal of medical genetics

authors： Maddox LO,Descartes M,Collins J,Keating J,Rosenfeld S,Palmer C,Carroll AJ,Kuzniecky R

更新日期：1997-07-01 00:00:00

abstract：BACKGROUND:HLA-DRB1 is the strongest susceptibility gene to rheumatoid arthritis (RA). HLA-DRB1 alleles showed significant non-additive and interactive effects on susceptibility to RA in the European population, but these effects on RA susceptibility should vary between populations due to the difference in allelic dist...

journal_title：Journal of medical genetics

authors： Terao C,Okada Y,Ikari K,Kochi Y,Suzuki A,Ohmura K,Matsuo K,Taniguchi A,Kubo M,Raychaudhuri S,Yamamoto K,Yamanaka H,Kamatani Y,Mimori T,Matsuda F

更新日期：2017-12-01 00:00:00

abstract：:Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. Repeats with 32 to 200 CAGs are associated with the disease, whereas normal chromosomes contain 13 to 33 repeats. We tested 220 families of different geographical origins for the SCA2 mutation. Thi...

journal_title：Journal of medical genetics

authors： Didierjean O,Cancel G,Stevanin G,Dürr A,Bürk K,Benomar A,Lezin A,Belal S,Abada-Bendid M,Klockgether T,Brice A

更新日期：1999-05-01 00:00:00

abstract：:A total of 592 cells was examined from 38 normal humans who had either small or very large Y chromosomes. Chromosome identification was based on the QFQ technique. The distance between the X and Y chromosome was measured from centromere to centromere. The spatial distance between X and Y was significantly smaller when...

journal_title：Journal of medical genetics

authors： Dosik D,Verma RS

更新日期：1983-12-01 00:00:00

abstract：BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...

journal_title：Journal of medical genetics

authors： Ververis A,Dajani R,Koutsou P,Aloqaily A,Nelson-Williams C,Loring E,Arafat A,Mubaidin AF,Horany K,Bader MB,Al-Baho Y,Ali B,Muhtaseb A,DeSpenza T Jr,Al-Qudah AA,Middleton LT,Zamba-Papanicolaou E,Lifton R,Christodoulou

更新日期：2020-03-01 00:00:00

abstract：:We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...

journal_title：Journal of medical genetics

authors： Schrander-Stumpel CT,de Die-Smulders CE,Hennekam RC,Fryns JP,Bouckaert PX,Brouwer OF,da Costa JJ,Lommen EJ,Maaswinkel-Mooy PD

更新日期：1992-05-01 00:00:00

abstract：:We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypog...

journal_title：Journal of medical genetics

authors： Oley CA,Baraitser M,Grant DB

更新日期：1988-03-01 00:00:00

abstract：:The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...

journal_title：Journal of medical genetics

authors： Saha N,Patgunarajah N

更新日期：1981-08-01 00:00:00

abstract：:The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P les...

journal_title：Journal of medical genetics

authors： Emery AE

更新日期：1986-08-01 00:00:00

abstract：:Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic...

journal_title：Journal of medical genetics

authors： Froggatt NJ,Brassett C,Koch DJ,Evans DG,Hodgson SV,Ponder BA,Maher ER

更新日期：1996-09-01 00:00:00

abstract：:A family study of hidradenitis suppurativa was undertaken based on 26 subjects with the disease. The probands were obtained from Hospital Activity Analysis (HAA) records for a three year period (1980 to 1983) and by direct referral from hospital specialists over a six month period (1983 to 1984). Family pedigree infor...

journal_title：Journal of medical genetics

authors： Fitzsimmons JS,Guilbert PR

更新日期：1985-10-01 00:00:00

abstract：:The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...

journal_title：Journal of medical genetics

authors： Roth EF Jr,Schiliro G,Russo A,Musumeci S,Rachmilewitz E,Neske V,Nagel R

更新日期：1980-02-01 00:00:00

abstract：BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ishii E,Sako M,Ohga S,Furuno K,Suzuki N,Ueda I,Imayoshi M,Yamamoto S,Morimoto A,Takada H,Hara T,Imashuku S,Sasazuki T,Yasukawa M

更新日期：2004-10-01 00:00:00

abstract：BACKGROUND:Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope ...

journal_title：Journal of medical genetics

authors： Soria-Valles C,Carrero D,Gabau E,Velasco G,Quesada V,Bárcena C,Moens M,Fieggen K,Möhrcken S,Owens M,Puente DA,Asensio Ó,Loeys B,Pérez A,Benoit V,Wuyts W,Lévy N,Hennekam RC,De Sandre-Giovannoli A,López-Otín C

更新日期：2016-11-01 00:00:00

abstract：AIMS AND BACKGROUND:Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS. RE...

journal_title：Journal of medical genetics

authors： Daoud H,Valdmanis PN,Kabashi E,Dion P,Dupré N,Camu W,Meininger V,Rouleau GA

更新日期：2009-02-01 00:00:00

abstract：BACKGROUND:The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE:To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. ...

journal_title：Journal of medical genetics

authors： He WB,Tu CF,Liu Q,Meng LL,Yuan SM,Luo AX,He FS,Shen J,Li W,Du J,Zhong CG,Lu GX,Lin G,Fan LQ,Tan YQ

更新日期：2018-03-01 00:00:00

abstract：BACKGROUND:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...

journal_title：Journal of medical genetics

authors： Putoux A,Nampoothiri S,Laurent N,Cormier-Daire V,Beales PL,Schinzel A,Bartholdi D,Alby C,Thomas S,Elkhartoufi N,Ichkou A,Litzler J,Munnich A,Encha-Razavi F,Kannan R,Faivre L,Boddaert N,Rauch A,Vekemans M,Attié-Bitac

更新日期：2012-11-01 00:00:00

abstract：:Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were ...

journal_title：Journal of medical genetics

authors： Villard L

更新日期：2007-07-01 00:00:00

abstract：:Neurofibromatosis type 1 is one of the most common inherited disorders with an incidence of 1 in 3000. The search for NF1 mutations has been hampered by the overall size of the gene, the large number of exons, and the high mutation rate. To date, fewer than 90 mutations have been reported to the NF1 mutation analysis ...

journal_title：Journal of medical genetics

authors： Upadhyaya M,Maynard J,Osborn M,Huson SM,Ponder M,Ponder BA,Harper PS

更新日期：1995-09-01 00:00:00

abstract：:The chiasma distribution of bivalents 15 and 16 identified at diakinesis by a quadruple staining technique including DA-DAPI fluorescence has been investigated in two human males. The study has shown that chiasmata are not distributed at random. Both chromosomes have distally localised chiasmata, but in the long arm o...

journal_title：Journal of medical genetics

authors： Saadallah N,Hultén M

更新日期：1983-08-01 00:00:00

abstract：:X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the vertebral bodies leading to characteristic changes in the vertebral bodies and a short trunk. The gene responsible for this disorder has previously been mapped to Xp22, with a maximum likelihood location between markers DXS16 and DXS92. We...

journal_title：Journal of medical genetics

authors： Bernard LE,Chitayat D,Weksberg R,Van Allen MI,Langlois S

更新日期：1996-05-01 00:00:00

abstract：BACKGROUND:Because the mitochondrial respiratory chain (RC) is ubiquitous, its deficiency can theoretically give rise to any symptom in any organ or tissue at any age with any mode of inheritance, owing to the twofold genetic origin of respiratory enzyme machinery, that is, nuclear and mitochondrial. Not all respirator...

journal_title：Journal of medical genetics

authors： de Beaurepaire I,Grévent D,Rio M,Desguerre I,de Lonlay P,Levy R,Dangouloff-Ros V,Bonnefont JP,Barcia G,Funalot B,Besmond C,Metodiev MD,Ruzzenente B,Assouline Z,Munnich A,Rötig A,Boddaert N

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta (OI) disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. OBJECTIVES:Here, we report a 3-year ol...

journal_title：Journal of medical genetics

authors： Balasubramanian M,Padidela R,Pollitt RC,Bishop NJ,Mughal MZ,Offiah AC,Wagner BE,McCaughey J,Stephens DJ

更新日期：2018-03-01 00:00:00

abstract：:A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromo...

journal_title：Journal of medical genetics

authors： Monheit A,Francke U,Saunders B,Jones KL

更新日期：1980-10-01 00:00:00

abstract：:Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have...

journal_title：Journal of medical genetics

authors： Taylor A,Brady AF,Frayling IM,Hanson H,Tischkowitz M,Turnbull C,Side L,UK Cancer Genetics Group (UK-CGG).

更新日期：2018-06-01 00:00:00