Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

abstract：:The 64Cu incorporation into uncloned fibroblast cultures from 16 Menkes disease mothers and 19 first and second degree female relatives was examined. The mean incorporation for the Menkes disease mothers (36.2 +/- 3.6 SEM) differed significantly from that of 25 normal subjects (21.7 +/- 0.9 SEM) suggesting the presenc...

journal_title：Journal of medical genetics

authors： Horn N

更新日期：1980-08-01 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：:A child with ambiguous genitalia, brought up phenotypically male, had a 46,XX/46,XY karyotype. At laparotomy, he had a left sided ovary and uterus, and a right sided scrotal testis. The 46,XX line made up 50% of cells in the blood and 90% of cells in a skin biopsy. There were no cytogenetic polymorphisms. Analysis of ...

journal_title：Journal of medical genetics

authors： Green AJ,Barton DE,Jenks P,Pearson J,Yates JR

更新日期：1994-10-01 00:00:00

abstract：:A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's t...

journal_title：Journal of medical genetics

authors： Valerio D,Lavorgna F,Scalona M,Conte A

更新日期：1993-08-01 00:00:00

abstract：:Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic...

journal_title：Journal of medical genetics

authors： Watson ML,Wright AF,Macnicol AM,Allan PL,Clayton JF,Dempster M,Jeremiah SJ,Corney G,Hopkinson DA

更新日期：1987-08-01 00:00:00

abstract：BACKGROUND:The clinical phenotype of CDH1 pathogenic variant carriers has mostly been studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at determining cancer phenotype and cancer risk estimation among families with CDH1 pathogenic variants not selected by HDGC clinical crite...

journal_title：Journal of medical genetics

authors： Xicola RM,Li S,Rodriguez N,Reinecke P,Karam R,Speare V,Black MH,LaDuca H,Llor X

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and c...

journal_title：Journal of medical genetics

authors： Molin AM,Andrieux J,Koolen DA,Malan V,Carella M,Colleaux L,Cormier-Daire V,David A,de Leeuw N,Delobel B,Duban-Bedu B,Fischetto R,Flinter F,Kjaergaard S,Kok F,Krepischi AC,Le Caignec C,Ogilvie CM,Maia S,Mathieu-Drama

更新日期：2012-02-01 00:00:00

abstract：:A family is recorded in which Duchenne's muscular dystrophy and protan colour blindness are segregating. Of 4 members of the second generation at least one is a recombinant. The lod scores have been calculated and added to those already published. ...

journal_title：Journal of medical genetics

authors： Greig DN

更新日期：1977-04-01 00:00:00

abstract：BACKGROUND:BRCA1 and BRCA2 (BRCA1/2) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is unclear and the association with the response to specific BRCA1/2-targeted agents is uncertain. To m...

journal_title：Journal of medical genetics

authors： Lee JS,Oh S,Park SK,Lee MH,Lee JW,Kim SW,Son BH,Noh DY,Lee JE,Park HL,Kim MJ,Cho SI,Lee YK,Park SS,Seong MW

更新日期：2018-12-01 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：:A brother and two sisters of remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the two older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, ...

journal_title：Journal of medical genetics

authors： Schinzel A,Hof E,Dangel P,Robinson W

更新日期：1990-11-01 00:00:00

abstract：:There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consi...

journal_title：Journal of medical genetics

authors： Bodrug SE,Roberson JR,Weiss L,Ray PN,Worton RG,Van Dyke DL

更新日期：1990-07-01 00:00:00

abstract：BACKGROUND:The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenes...

journal_title：Journal of medical genetics

authors： El Hokayem J,Huber C,Couvé A,Aziza J,Baujat G,Bouvier R,Cavalcanti DP,Collins FA,Cordier MP,Delezoide AL,Gonzales M,Johnson D,Le Merrer M,Levy-Mozziconacci A,Loget P,Martin-Coignard D,Martinovic J,Mortier GR,Perez MJ

更新日期：2012-04-01 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：BACKGROUND:Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located...

journal_title：Journal of medical genetics

authors： Depienne C,Heron D,Betancur C,Benyahia B,Trouillard O,Bouteiller D,Verloes A,LeGuern E,Leboyer M,Brice A

更新日期：2007-07-01 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 features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the del...

journal_title：Journal of medical genetics

authors： Sillence DO,Chiodo AA,Campbell PE,Cole WG

更新日期：1991-12-01 00:00:00

abstract：BACKGROUND:In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment. METHODS:A literature search revealed 690 different phenylalanine hydroxylase genotypes in 30...

journal_title：Journal of medical genetics

authors： Danecka MK,Woidy M,Zschocke J,Feillet F,Muntau AC,Gersting SW

更新日期：2015-03-01 00:00:00

abstract：BACKGROUND:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...

journal_title：Journal of medical genetics

authors： Wolf N,Quaranta M,Prescott NJ,Allen M,Smith R,Burden AD,Worthington J,Griffiths CE,Mathew CG,Barker JN,Capon F,Trembath RC

更新日期：2008-02-01 00:00:00

abstract：:A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especial...

journal_title：Journal of medical genetics

authors： Scarbrough PR,Carroll AJ,Finley SC,Hamerick K

更新日期：1986-04-01 00:00:00

abstract：:We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turkish pedigree and R59op (C-...

journal_title：Journal of medical genetics

authors： Ali M,Tunçman G,Cross NC,Vidailhet M,Bökesoy I,Gitzelmann R,Cox TM

更新日期：1994-06-01 00:00:00

abstract：:We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus. ...

journal_title：Journal of medical genetics

authors： Schwartz RC,Blanton SH,Hyde CA,Sottile TR Jr,Hudgins L,Sarfarazi M,Tsipouras P

更新日期：1990-02-01 00:00:00

abstract：BACKGROUND:Progress has been made in identifying mutations that confer susceptibility to complex diseases, with the prospect that these genetic risks might be used in determining individual disease risk. AIM:To use Crohn disease (CD) as a model of a common complex disorder, and to develop methods to estimate disease r...

journal_title：Journal of medical genetics

authors： Lewis CM,Whitwell SC,Forbes A,Sanderson J,Mathew CG,Marteau TM

更新日期：2007-11-01 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：: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：:A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...

journal_title：Journal of medical genetics

authors： Nadal M,Moreno S,Pritchard M,Preciado MA,Estivill X,Ramos-Arroyo MA

更新日期：1997-01-01 00:00:00

abstract：:Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Aalfs CM,Sluitjer S,Oude Luttikhuis ME,Trembath RC,Hoovers JM,Hennekam RC

更新日期：1999-08-01 00:00:00

abstract：:Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene...

journal_title：Journal of medical genetics

authors： Lintas C,Persico AM

更新日期：2009-01-01 00:00:00

abstract：:A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter). ...

journal_title：Journal of medical genetics

authors： Bene M,Duca-Marinescu A,Ioan D,Maximilian C

更新日期：1979-08-01 00:00:00

abstract：:Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...

journal_title：Journal of medical genetics

authors： Sampson JR,Janssen LA,Sandkuijl LA

更新日期：1992-12-01 00:00:00