Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

abstract：:A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeri...

journal_title：Journal of medical genetics

authors： Au KS,Murrell J,Buckler A,Blanton SH,Northrup H

更新日期：1996-07-01 00:00:00

abstract：:Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...

journal_title：Journal of medical genetics

authors： Knight LA,Soon GM,Tan M

更新日期：1993-07-01 00:00:00

abstract：BACKGROUND:Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associa...

journal_title：Journal of medical genetics

authors： Kiritsi D,Kern JS,Schumann H,Kohlhase J,Has C,Bruckner-Tuderman L

更新日期：2011-07-01 00:00:00

abstract：BACKGROUND:Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH f...

journal_title：Journal of medical genetics

authors： Nasser H,Vera L,Elmaleh-Bergès M,Steindl K,Letard P,Teissier N,Ernault A,Guimiot F,Afenjar A,Moutard ML,Héron D,Alembik Y,Momtchilova M,Milani P,Kubis N,Pouvreau N,Zollino M,Guilmin Crepon S,Kaguelidou F,Gressens P

更新日期：2020-06-01 00:00:00

abstract：:The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the cli...

journal_title：Journal of medical genetics

authors： Meindl A,Hosenfeld D,Brückl W,Schuffenhauer S,Jenderny J,Bacskulin A,Oppermann HC,Swensson O,Bouloux P,Meitinger T

更新日期：1993-10-01 00:00:00

abstract：:Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The conside...

journal_title：Journal of medical genetics

authors： Bernstein R,Isdale J,Pinto M,Du Toit Zaaijman J,Jenkins T

更新日期：1985-02-01 00:00:00

abstract：:Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identi...

journal_title：Journal of medical genetics

authors： Bugge M,Bruun-Petersen G,Brøndum-Nielsen K,Friedrich U,Hansen J,Jensen G,Jensen PK,Kristoffersson U,Lundsteen C,Niebuhr E,Rasmussen KR,Rasmussen K,Tommerup N

更新日期：2000-11-01 00:00:00

abstract：:Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: this (M/(M+F)) is of the ...

journal_title：Journal of medical genetics

authors： James WH

更新日期：1979-10-01 00:00:00

abstract：BACKGROUND:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...

journal_title：Journal of medical genetics

authors： Ballarati L,Rossi E,Bonati MT,Gimelli S,Maraschio P,Finelli P,Giglio S,Lapi E,Bedeschi MF,Guerneri S,Arrigo G,Patricelli MG,Mattina T,Guzzardi O,Pecile V,Police A,Scarano G,Larizza L,Zuffardi O,Giardino D

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed seems to be part of a larger malformation syndrome, since both craniofacial and central nervous system changes were pre...

journal_title：Journal of medical genetics

authors： Bayoumi R,Saar K,Lee YA,Nürnberg G,Reis A,Nur-E-Kamal M,Al-Gazali LI

更新日期：2001-06-01 00:00:00

abstract：:The impact of information-guidance type of genetic counseling was evaluated for the family planning of 2082 consultands. The understanding of the risks, parental decision, and the number of induced and spontaneous abortions were evaluated by the use of questionnaires. The stillbirths, livebirths, infant deaths, and ba...

journal_title：Journal of medical genetics

authors： Czeizel A,Métneki J,Osztovics M

更新日期：1981-04-01 00:00:00

abstract：:We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret criteria. We identified a germline alteration of TP53 in 82 families (17%), in 67/232 of the families fulfilling the Chompret criteria (29%) and in 15/242 whic...

journal_title：Journal of medical genetics

authors： Bougeard G,Sesboüé R,Baert-Desurmont S,Vasseur S,Martin C,Tinat J,Brugières L,Chompret A,de Paillerets BB,Stoppa-Lyonnet D,Bonaïti-Pellié C,Frébourg T,French LFS working group.

更新日期：2008-08-01 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：: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：:DNA fingerprinting was performed to verify the pedigree structure of a family under investigation for an unusual case of beta thalassaemia. A higher than expected proportion of hypervariable bands was shared by the proband and his mother, leading to suspicion that the child had been the product of a consanguineous mat...

journal_title：Journal of medical genetics

authors： Wells RA,Wonke B,Thein SL

更新日期：1988-10-01 00:00:00

abstract：:A family is reported which a diabetic woman gave birth to two children with the caudal regression anomalad (CRA). There were no obvious genetic factors. This is the first reported familial case of CRA with maternal diabetes. ...

journal_title：Journal of medical genetics

authors： Stewart JM,Stoll S

更新日期：1979-02-01 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：: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：:Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this condition may be genetic with an autosomal dominant mode of inheritance. ...

journal_title：Journal of medical genetics

authors： Badejo OA

更新日期：1984-04-01 00:00:00

abstract：:X chromosome inactivation is widely studied using DNA sequence polymorphisms and DNA methylation as a surrogate measure of inactivation, but the correlation of methylation with inactivation is not perfect. Thus, it may be better to study sequence polymorphisms expressed in the mRNA. A recent paper reported use of a si...

journal_title：Journal of medical genetics

authors： Mortazavi Y,Chopra R,Gordon-Smith EC,Rutherford TR

更新日期：1997-12-01 00:00:00

abstract：:We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. ...

journal_title：Journal of medical genetics

authors： Telvi L,Pinard JM,Ion R,Sinet PM,Nicole A,Feingold J,Dulac O,Pompidou A,Ponsot G

更新日期：1992-10-01 00:00:00

abstract：:HLA and Gm typing were carried out in 16 families. Seven families included 10 sib pairs with rheumatoid arthritis (RA) and autoimmune thyroid disease (ATD) respectively, and nine families included 16 sib pairs with RA and circulating thyroid autoantibodies respectively. Eight, 11, and seven sib pairs with either RA or...

journal_title：Journal of medical genetics

authors： Sanders PA,Grennan DM,Dyer PA,de Lange GG,Harris R

更新日期：1985-12-01 00:00:00

abstract：BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...

journal_title：Journal of medical genetics

authors： Shaheen R,Al Hashem A,Alghamdi MH,Seidahmad MZ,Wakil SM,Dagriri K,Keavney B,Goodship J,Alyousif S,Al-Habshan FM,Alhussein K,Almoisheer A,Ibrahim N,Alkuraya FS

更新日期：2015-05-01 00:00:00

abstract：:The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe ost...

journal_title：Journal of medical genetics

authors： Cole WG,Lam TP

更新日期：1996-03-01 00:00:00

abstract：BACKGROUND:Genomic imprinting is a process causing genes to be expressed according to parental origin. Imprinting acts to coordinate fetal and prenatal growth, as well as control postnatal adaptations. Studies on human imprinting are confounded by tissue availability, sampling variability and limitations posed by tissu...

journal_title：Journal of medical genetics

authors： Lim AL,Ng S,Leow SC,Choo R,Ito M,Chan YH,Goh SK,Tng E,Kwek K,Chong YS,Gluckman PD,Ferguson-Smith AC

更新日期：2012-11-01 00:00:00

abstract：:There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with...

journal_title：Journal of medical genetics

authors： Farrar GJ,Geraghty MT,Moloney JM,McConnell DJ,Humphries P

更新日期：1988-04-01 00:00:00

abstract：:A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate ...

journal_title：Journal of medical genetics

authors： McCann SR,Smithwick AM,Temperley IJ,Tipton K

更新日期：1980-06-01 00:00:00

abstract：:We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...

journal_title：Journal of medical genetics

authors： Martínez F,Tomás M,Millán JM,Fernández A,Palau F,Prieto F

更新日期：1998-04-01 00:00:00

abstract：:We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real ti...

journal_title：Journal of medical genetics

authors： Iwaki A,Kawano Y,Miura S,Shibata H,Matsuse D,Li W,Furuya H,Ohyagi Y,Taniwaki T,Kira J,Fukumaki Y

更新日期：2008-01-01 00:00:00

abstract：:The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenita...

journal_title：Journal of medical genetics

authors： Sarri C,Côté GB,Mengreli C,Lambadaridis I,Pantelakis S

更新日期：1988-04-01 00:00:00