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At least 973 records · Page 54Linked to original sources
PubMed1981

Systemic factors in patients with low-tension glaucoma.

Nineteen patients (38 eyes) with low-tension glaucoma were compared with 53 subjects (106 eyes) with ocular hypertension. Comparable for age and sex, the 2 groups were assessed with respect to haematological and biochemical criteria, physical activity, and medical history. Statistical analyses of the differences between the 2 groups highlighted the importance of diastolic ophthalmodynamometry levels, prediagnosis exercise habits, cardiovascular disease status, and possibly systolic blood pressure. Patients with low-tension glaucoma suffered a higher prevalence of multiple abnormalities of these systemic factors than did their ocular hypertensive counterparts. There were no significant differences between the 2 groups with respect to the many other factors examined.

Adult↗
PubMed1987

A rare variant of common arterial trunk.

A 13 day old baby was admitted to hospital with multiple abnormalities, increasing cyanosis, and cardiac failure. Cardiac catheterisation was performed on the day of admission and he died shortly after the procedure. A rare variant of common arterial trunk, in which the pulmonary arteries arose directly from the underside of the aortic arch, was found at necropsy.

Humans↗
PubMed1976

Non-disjunction of an unusual X chromosome.

Because of multiple abnormalities in her children, a young mother was investigated and shown to have a 47,XXX chromosome constitution. Additional C group chromosomes without visible centromeric constrictions were found in a number of cells from the peripheral blood, and using C and Q banding techniques these chromosomes were identified as X chromosomes. Analysis of the banding karyotypes of 300 cells revealed that the acentric X chromosomes had the ability to replicate and that this replication was associated with non-disjunction leading to aneuploid cells. Even though cultured skin cells did not have acentric or extra chromosomes in addition to the triple-X, examination of buccal mucosa cells for the presence of X-bodies suggested that the phenomenon of non-disjunction was present in the epithelial cells of the patient. In addition to the X without a visible centromeric constriction, either acentric D or E chromosomes were found. The data suggest that a functional defect in the cells per se is responsible for the appearance of the acentric chromosomes.

Adult↗
PubMed1981

Partial trisomy 12q.

A partial trisomy 12q243 leads to qter resulting from a maternal balanced translocation, 46,XX,t(9;12)(p243;q243) was detected in a male newborn with multiple congenital abnormalities. The maternal grandmother was also a carrier of the 9;12 translocation. Our patient exhibited a number of clinica features similar to two others reported, who were also trisomic for the distal part of 12q. Aberrations of chromosome 12 are very rare. There have been only two reports of partial trisomy 12q, both the result of a familial translocation. We describe a third unbalanced case.

Abnormalities, Multiple↗
PubMed1983

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as a result of adjacent 1 segregation of a familial translocation, t(9;12) (p24;q21.2). A combination of cytogenetic analysis, clinical features, and enzyme marker studies allows an accurate assessment of the breakpoints. Although trisomic for a considerably larger area of 12q than other reported cases, there are many similar features suggesting that trisomy 12q is a clinically recognisable syndrome. The frequency and mode of segregation of 12q translocations and their implications for genetic counselling are discussed.

Chromosome Aberrations↗
PubMed2006

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

BACKGROUND: Costello syndrome (CS) is a rare multiple congenital abnormality syndrome, associated with failure to thrive and developmental delay. One of the more distinctive features in childhood is the development of facial warts, often nasolabial and in other moist body surfaces. Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRAS gene on chromosome 11p13.3 have been found to cause CS. METHODS: We report here the results of HRAS analysis in 43 individuals with a clinical diagnosis of CS. RESULTS: Mutations were found in 37 (86%) of patients. Analysis of parental DNA samples was possible in 16 cases for both parents and in three cases for one parent, and confirmed the mutations as de novo in all of these cases. Three novel mutations (G12C, G12E, and K117R) were found in five cases. CONCLUSIONS: These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS. Analysis of the major phenotypic features by mutation suggests a potential correlation between malignancy risk and genotype, which is highest for patients with an uncommon (G12A) substitution. These results confirm that mutation testing for HRAS is a reliable diagnostic test for CS.

Abnormalities, Multiple↗
PubMed1986

Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Partial monosomy 10q25.2----qter, detected in a newborn baby with multiple congenital abnormalities, was found to be derived from a balanced maternal translocation t(6;10)(q27;q25.2). The pedigree of six generations of the family is presented. In an extensive cytogenetic study of this family, the chromosome complements of 57 subjects, potentially capable of carrying some form of this translocation, were analysed. A total of 14 male carriers (four obligatory) and 14 female carriers (three obligatory) of this translocation was found. Partial trisomy 10q25.2----qter, associated with severe mental retardation, occurred in nine cases, eight males and one female. Two of these eight males were detected prenatally and subsequently therapeutically aborted. The phenotypes of the family members with partial trisomy 10q25.2----qter are compared to each other and to those reported in publications. No further cases of partial monosomy 10q25.2----qter were encountered. A review of published reports of partial monosomy and partial trisomy 10qter is given. The apparent absence of infertility, the occurrence of many first trimester miscarriages, and the marked sex ratio are discussed.

Abnormalities, Multiple↗
PubMed1987

Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.

Cytogenetic examination of a dysmorphic infant with multiple congenital abnormalities revealed a possible de novo interstitial deletion in the long arm of chromosome 16. Conclusive proof of the deletion was obtained by flow karyotype analysis of the patient and both parents, which showed that the deleted segment was approximately 7000 kb in size.

Abnormalities, Multiple↗
PubMed1990

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.

Ellis-Van Creveld Syndrome↗
PubMed1990

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.

Abnormalities, Multiple↗
PubMed1992

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely inclusion of some chromosomally abnormal infants which were not identified. About half of the infants are stillborn. There is a female excess among infants with cyclopia. Excess twinning occurred for cyclopia and possibly also for sirenomelia. An analysis of associated malformations indicates the similarity between the two conditions, which is in agreement with recent embryological analysis.

Abnormalities, Multiple↗
PubMed1989

Clinical and laboratory findings in cats infected with feline immunodeficiency virus.

Thirty-two cats referred to the Feline Studies Centre between June 1987 and October 1988, and 14 in-contact cats, were found to be infected with feline immunodeficiency virus. Most of the 46 cats were non-pedigree and free ranging; 27 were male (19 neutered) and 19 were female (18 neutered). Their ages ranged from one to 17 years and the average age was 5.8 years. The most common clinical signs were lethargy, inappetence, weight loss, pyrexia and lymphadenopathy; most cases had multiple abnormalities. Other common signs were gingivitis, diarrhoea, rhinitis and ocular discharge. Eight cats had neoplasia. The commonest haematological abnormalities were anaemia, neutropenia, lymphopenia and monocytosis. Eight cats had lymphocytosis; seven of these were in a single house-hold. Several cats had high serum globulin levels and half of those tested had high IgG levels. Seven cats had no detectable antibody to feline immunodeficiency virus even though the virus was cultured from the peripheral blood lymphocytes. During follow-up for up to 60 weeks one cat died and 23 were destroyed on humane grounds.

Age Factors↗
PubMed1984

Trisomy in man.

Explore the source record for details and available documents.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

CT of bowel and mesenteric trauma in children.

Although most traumatic abdominal injuries in children are treated with conservative nonsurgical management, traumatic perforation or infarction of the gastrointestinal tract still necessitates surgical management. It is imperative to recognize the often subtle computed tomographic (CT) findings of bowel or mesenteric trauma in children. Pediatric patients with bowel perforation or infarction due to trauma usually demonstrate multiple abnormalities at CT. A specific history of lap belt injury, bicycle handlebar injury, or child abuse with an abdominal injury should heighten suspicion for a bowel injury. CT findings in children with bowel or mesenteric trauma include free intraperitoneal air, free retroperitoneal air, extraluminal oral contrast material, free intraperitoneal fluid, bowel wall defect, bowel wall thickening, mesenteric stranding, fluid at the mesenteric root, focal hematoma, active hemorrhage, and mesenteric pseudoaneurysm. Some findings, such as free intraperitoneal air and focal bowel wall thickening, are associated with a strong likelihood of a bowel injury that requires surgical repair. Other findings, such as free intraperitoneal fluid, mesenteric stranding, fluid at the mesenteric root, and focal hematoma, are less specific for an injury that requires surgical repair. The hypoperfusion complex can usually be differentiated from a traumatic bowel injury; however, in some patients the imaging findings overlap.

Abdominal Injuries↗