Complete absence of external genitalia in limb-body wall complex: two cases.

abstract：:Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function asso...

journal_title：Journal of medical genetics

authors： Meeks M,Walne A,Spiden S,Simpson H,Mussaffi-Georgy H,Hamam HD,Fehaid EL,Cheehab M,Al-Dabbagh M,Polak-Charcon S,Blau H,O'Rawe A,Mitchison HM,Gardiner RM,Chung E

更新日期：2000-04-01 00:00:00

abstract：:A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a...

journal_title：Journal of medical genetics

authors： Phadke SR,Sharma AK,Agarwal SS

更新日期：1994-12-01 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：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：:Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11.3. Patients have been described with deletions of the Duchenne muscular dystrophy (DMD) gene who also had a negative electroretinogram (ERG) similar to that seen in patients with CSNB and AIED. This seems...

journal_title：Journal of medical genetics

authors： Jensen H,Warburg M,Sjö O,Schwartz M

更新日期：1995-05-01 00:00:00

abstract：:The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in t...

journal_title：Journal of medical genetics

authors： Pivnick EK,Furman WL,Velagaleti GV,Jenkins JJ,Chase NA,Ribeiro RC

更新日期：1998-04-01 00:00:00

abstract：BACKGROUND:Multiple morphological abnormalities of the sperm flagella (MMAF) is a kind of severe teratozoospermia. Patients with the MMAF phenotype are infertile and present aberrant spermatozoa with absent, short, coiled, bent and/or irregular flagella. Mutations in several genes can explain approximately 30%-50% of M...

journal_title：Journal of medical genetics

authors： Liu W,Sha Y,Li Y,Mei L,Lin S,Huang X,Lu J,Ding L,Kong S,Lu Z

更新日期：2019-10-01 00:00:00

abstract：BACKGROUND:Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form ...

journal_title：Journal of medical genetics

authors： Capo-Chichi JM,Tcherkezian J,Hamdan FF,Décarie JC,Dobrzeniecka S,Patry L,Nadon MA,Mucha BE,Major P,Shevell M,Bencheikh BO,Joober R,Samuels ME,Rouleau GA,Roux PP,Michaud JL

更新日期：2013-11-01 00:00:00

abstract：:A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome. ...

journal_title：Journal of medical genetics

authors： Herr HM,Horton SJ,Scott CI Jr

更新日期：1985-04-01 00:00:00

abstract：:Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative ...

journal_title：Journal of medical genetics

authors： Veenema H,Veenema T,Geraedts JP

更新日期：1987-01-01 00:00:00

abstract：:Linkage between the locus for cystic fibrosis and other genetic markers was explored in 40 families from Birmingham and 20 from Manchester. No strong evidence was found for linkage with any of the markers examined. There was evidence against close linkage with ABO, HLA, and Rh. ...

journal_title：Journal of medical genetics

authors： Goodchild MC,Edwards JH,Glenn KP,Grindey C,Harris R,Mackintosh P,Wentzel J

更新日期：1976-12-01 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：BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...

journal_title：Journal of medical genetics

authors： Bloss CS,Wineinger NE,Darst BF,Schork NJ,Topol EJ

更新日期：2013-06-01 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：BACKGROUND:Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. OBJECTIVE:To perfor...

journal_title：Journal of medical genetics

authors： Garone C,Taylor RW,Nascimento A,Poulton J,Fratter C,Domínguez-González C,Evans JC,Loos M,Isohanni P,Suomalainen A,Ram D,Hughes MI,McFarland R,Barca E,Lopez Gomez C,Jayawant S,Thomas ND,Manzur AY,Kleinsteuber K,Marti

更新日期：2018-08-01 00:00:00

abstract：:The most useful markers for the prenatal diagnosis of myotonic dystrophy (DM) are APOC2 and CKM, both of which map proximal to DM. In order to produce other markers useful for DM, we have screened genomic DNA libraries constructed from cell line 20XP3542-1-4, which contains 20 to 30 Mb of human material including APOC...

journal_title：Journal of medical genetics

authors： Brook JD,Harley HG,Walsh KV,Rundle SA,Siciliano MJ,Harper PS,Shaw DJ

更新日期：1991-02-01 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：:Pericentric inversions in chromosome 2 were traced in 2 unrelated North American black families. In the case of inv(2)(p13q11) no effect on reproduction was observed. In the case of inv(2)(p11q13) some reproductive abnormalities were noted which might be related to the inversion. ...

journal_title：Journal of medical genetics

authors： Phillips RB

更新日期：1978-10-01 00:00:00

abstract：:Eighty-six women fulfilling specific selection criteria were studied for germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, using the protein truncation test (PTT). Nine germline mutations were identified, six in BRCA1 and three in BRCA2. Of the six BRCA1 mutations, three have previously be...

journal_title：Journal of medical genetics

authors： Garvin AM,Attenhofer-Haner M,Scott RJ

更新日期：1997-12-01 00:00:00

abstract：:Studies of migraine with aura (MA) have shown familial aggregation of the disorder, which cannot be explained by simple mendelian inheritance. The interest in a genetic basis for the disorder has increased after identification of three genetic loci for familial hemiplegic migraine (FHM), which is a rare subtype of MA ...

journal_title：Journal of medical genetics

authors： Ulrich V,Gervil M,Kyvik KO,Olesen J,Russell MB

更新日期：1999-03-01 00:00:00

abstract：:Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol...

journal_title：Journal of medical genetics

authors： Shaikh MG,Boyes L,Kingston H,Collins R,Besley GT,Padmakumar B,Ismayl O,Hughes I,Hall CM,Hellerud C,Achermann JC,Clayton PE

更新日期：2008-09-01 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：:The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associat...

journal_title：Journal of medical genetics

authors： Nicholls AC,Osse G,Schloon HG,Lenard HG,Deak S,Myers JC,Prockop DJ,Weigel WR,Fryer P,Pope FM

更新日期：1984-08-01 00:00:00

abstract：BACKGROUND:Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic evaluation has been performed to analyse the detrimental and normal mutations on CAPN3 and its hotspots. METHODS:CAPN3 variants (n=112) from a total of 124 pat...

journal_title：Journal of medical genetics

authors： Zhong H,Zheng Y,Zhao Z,Lin P,Xi J,Zhu W,Lin J,Lu J,Yu M,Zhang W,Lv H,Yan C,Hu J,Wang Z,Lu J,Zhao C,Yuan Y,Luo S

更新日期：2020-09-29 00:00:00

abstract：BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...

journal_title：Journal of medical genetics

authors： Renou L,Stora S,Yaou RB,Volk M,Sinkovec M,Demay L,Richard P,Peterlin B,Bonne G

更新日期：2008-10-01 00:00:00

abstract：BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...

journal_title：Journal of medical genetics

authors： Nielsen M,Vermont CL,Aten E,Ruivenkamp CA,van Herrewegen F,Santen GW,Breuning MH

更新日期：2012-09-01 00:00:00

abstract：:Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. The PD patients show a wide range of clinical outcomes characterised mainly by intractable skin ulcers, mental retardation and recurrent respiratory infections. Here we describe five different ...

journal_title：Journal of medical genetics

authors： Lupi A,Rossi A,Campari E,Pecora F,Lund AM,Elcioglu NH,Gultepe M,Di Rocco M,Cetta G,Forlino A

更新日期：2006-12-01 00:00:00

abstract：:The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...

journal_title：Journal of medical genetics

authors： McMillan SA,Hill AJ,Graham CA,Nevin NC,Fay AC

更新日期：1989-07-01 00:00:00

abstract：:Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then dete...

journal_title：Journal of medical genetics

authors： Petersen CE,Scottolini AG,Cody LR,Mandel M,Reimer N,Bhagavan NV

更新日期：1994-05-01 00:00:00

abstract：:The appropriate ABH-gene specified glycosyltransferases in the plasma of the Birmingham chimaera were estimated. These observatiions and the demonstration of A1Leb blood group specific glycosphingolipid in the plasma indicate that the minority population of red blood cells probably represents the true blood groups of ...

journal_title：Journal of medical genetics

authors： Bird GW,Battey DA,Greenwell P,Mortimer CW,Watkins WM,Wingham J

更新日期：1976-02-01 00:00:00