Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.

abstract：:World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. ...

journal_title：Journal of medical genetics

authors：

更新日期：1993-12-01 00:00:00

abstract：:Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this...

journal_title：Journal of medical genetics

authors： Begeer JH,Scholte FA,van Essen AJ

更新日期：1991-12-01 00:00:00

abstract：:Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is...

journal_title：Journal of medical genetics

authors： Okamoto N,Wada Y,Goto M

更新日期：1997-08-01 00:00:00

abstract：BACKGROUND:Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan-Diamond syndrome due to haploinsufficiency of the RPS19 gene. Such a paucity of patients might be due to the difficulty in detecting a small rearrangement on this chromosome that lacks...

journal_title：Journal of medical genetics

authors： Malan V,Raoul O,Firth HV,Royer G,Turleau C,Bernheim A,Willatt L,Munnich A,Vekemans M,Lyonnet S,Cormier-Daire V,Colleaux L

更新日期：2009-09-01 00:00:00

abstract：BACKGROUND:Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge infl...

journal_title：Journal of medical genetics

authors： Gargiulo M,Tezenas du Montcel S,Jutras MF,Herson A,Cazeneuve C,Durr A

更新日期：2017-08-01 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：BACKGROUND:Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. METHOD:Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-g...

journal_title：Journal of medical genetics

authors： Le Meur N,Holder-Espinasse M,Jaillard S,Goldenberg A,Joriot S,Amati-Bonneau P,Guichet A,Barth M,Charollais A,Journel H,Auvin S,Boucher C,Kerckaert JP,David V,Manouvrier-Hanu S,Saugier-Veber P,Frébourg T,Dubourg C,Andr

更新日期：2010-01-01 00:00:00

abstract：:Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroidism (PHP) owing to resistance to parathormone (PTH) or pseudopseudohy...

journal_title：Journal of medical genetics

authors： Power MM,James RS,Barber JC,Fisher AM,Wood PJ,Leatherdale BA,Flanagan DE,Hatchwell E

更新日期：1997-04-01 00:00:00

abstract：:We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ...

journal_title：Journal of medical genetics

authors： Buntincx IM,Van Overmeire B,Desager K,Van Hauwaert J

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. PATIENTS:DNA samples from 1445 unrelated patients submitted consecutively for clinical arra...

journal_title：Journal of medical genetics

authors： Miller DT,Shen Y,Weiss LA,Korn J,Anselm I,Bridgemohan C,Cox GF,Dickinson H,Gentile J,Harris DJ,Hegde V,Hundley R,Khwaja O,Kothare S,Luedke C,Nasir R,Poduri A,Prasad K,Raffalli P,Reinhard A,Smith SE,Sobeih MM,S

更新日期：2009-04-01 00:00:00

abstract：BACKGROUND:Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functio...

journal_title：Journal of medical genetics

authors： Wielders EA,Hettinger J,Dekker R,Kets CM,Ligtenberg MJ,Mensenkamp AR,van den Ouweland AM,Prins J,Wagner A,Dinjens WN,Dubbink HJ,van Hest LP,Menko F,Hogervorst F,Verhoef S,te Riele H

更新日期：2014-04-01 00:00:00

abstract：:Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity of the alpha subunit of t...

journal_title：Journal of medical genetics

authors： Wilson LC,Oude Luttikhuis ME,Baraitser M,Kingston HM,Trembath RC

更新日期：1997-02-01 00:00:00

abstract：:Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these child...

journal_title：Journal of medical genetics

authors： Brooks AS,Breuning MH,Osinga J,vd Smagt JJ,Catsman CE,Buys CH,Meijers C,Hofstra RM

更新日期：1999-06-01 00:00:00

abstract：:To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocy...

journal_title：Journal of medical genetics

authors： Moss C,Larkins S,Stacey M,Blight A,Farndon PA,Davison EV

更新日期：1993-09-01 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：:We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (M...

journal_title：Journal of medical genetics

authors： Devriendt K,Standaert L,Van Hole C,Devlieger H,Fryns JP

更新日期：1998-01-01 00:00:00

abstract：:The results of 200 antenatal diagnoses in pregnancies at risk for homozygous beta-thalassaemia, carried out on fetal blood samples obtained by placental aspiration in the second trimester, are described. Globin chain synthesis in the fetuses was measured by means of 3H-leucine incorporation and separation of the chain...

journal_title：Journal of medical genetics

authors： Cao A,Furbetta M,Angius A,Ximenes A,Rosatelli C,Tuveri T,Scalas MT,Falchi AM,Angioni G,Caminiti F

更新日期：1982-04-01 00:00:00

abstract：BACKGROUND:Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot complete...

journal_title：Journal of medical genetics

authors： Mencarelli MA,Heidet L,Storey H,van Geel M,Knebelmann B,Fallerini C,Miglietti N,Antonucci MF,Cetta F,Sayer JA,van den Wijngaard A,Yau S,Mari F,Bruttini M,Ariani F,Dahan K,Smeets B,Antignac C,Flinter F,Renieri A

更新日期：2015-03-01 00:00:00

abstract：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. Recently mutations have been found in the genes for type V collagen in a small number of people with the most common forms of EDS, types I and II. Here we characterise a COL5A2 mutation in an EDS II family. Cultured dermal fibroblast...

journal_title：Journal of medical genetics

authors： Richards AJ,Martin S,Nicholls AC,Harrison JB,Pope FM,Burrows NP

更新日期：1998-10-01 00:00:00

abstract：:The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and proportion. Similarly, all ...

journal_title：Journal of medical genetics

authors： Cole WG,Chow CW,Bateman JF,Sillence DO

更新日期：1996-11-01 00:00:00

abstract：:The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5' and 3' untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuc...

journal_title：Journal of medical genetics

authors： Luo YB,Mastaglia FL,Wilton SD

更新日期：2014-04-01 00:00:00

abstract：:Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypo-glycaemia. It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life....

journal_title：Journal of medical genetics

authors： al-Gazali LI,Khalil M,Devadas K

更新日期：1993-06-01 00:00:00

abstract：:Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general pop...

journal_title：Journal of medical genetics

authors： Wang ZJ,Churchman M,Avizienyte E,McKeown C,Davies S,Evans DG,Ferguson A,Ellis I,Xu WH,Yan ZY,Aaltonen LA,Tomlinson IP

更新日期：1999-05-01 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：:A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represen...

journal_title：Journal of medical genetics

authors： Ventruto V,Di Girlamo R,Festa B,Romano A,Sebastio G,Sebastio L

更新日期：1976-10-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the f...

journal_title：Journal of medical genetics

authors： Simard J,Dumont M,Moisan AM,Gaborieau V,Malouin H,Durocher F,Chiquette J,Plante M,Avard D,Bessette P,Brousseau C,Dorval M,Godard B,Houde L,INHERIT BRCAs.,Joly Y,Lajoie MA,Leblanc G,Lépine J,Lespérance B,Vézina H,

更新日期：2007-02-01 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：:We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is ...

journal_title：Journal of medical genetics

authors： Krajinovic M,Ivanovic K,Mestroni L,Diklic V,Nikolis J

更新日期：1994-03-01 00:00:00

abstract：:A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subj...

journal_title：Journal of medical genetics

authors： Nielsen KB,Egede F,Mouridsen I,Mohr J

更新日期：1979-12-01 00:00:00

abstract：:Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phaeochromocytoma. In a pr...

journal_title：Journal of medical genetics

authors： Maher ER,Webster AR,Richards FM,Green JS,Crossey PA,Payne SJ,Moore AT

更新日期：1996-04-01 00:00:00