Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-month-old male infant with partial trisomy 18, 46,XY,der(4),t(q35;q21.1)mat, was presented. Except for atypical facies, he had many of the significant signs of full trisomy 18. Phenotype-karyotype correlations based on the data of our case and those from the literature were discussed. Major features of trisomy 18, such as congenital heart disease, early death, and external malformations, appear to be consistently related to the trisomic state of 18q21. Characteristic congenital heart diseases in trisomy 18 were polyvalvular disease in 100%, membranous ventricular septal defect, patent ductus arteriosus, and high take-off of the right coronary ostium. Pathology of the heart did not differ between full and partial 18-trisomy cases.
 ...
PMID:Trisomy 18q. A case report and review of karyotype-phenotype correlations. 726 72

We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter = to 22q13 :: 11q25 = to 11qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3 : 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of reported patients with "partial trisomy 11q" and "trisomy 22" syndromes. Half of the ten reported families had additional balanced translocation carriers who may have an increased risk of having a liveborn child with an MCA/MR syndrome, although none have been reported to date.
 ...
PMID:Tertiary trisomy (22q11q),47,+der(22),t(11;22). 735 84

A child is described with multiple congenital abnormalities including microcephaly, odd facies, Fallot's tetralogy, and absent parathyroids. These were associated with partial trisomy for the distal half of the long arm of chromosome 14, the extra segment being translocated to the short arms of No 10. The main clinical problems were those related to the congenital heart disease and hypocalcaemia.
 ...
PMID:A child trisomic for the distal part of chromosome 14q. 743 88

We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A-V) canal defect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes.
 ...
PMID:Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. 765 92

Medical records of 118 newborn infants with Down's syndrome were reviewed to document the types of congenital heart disease (CHD) in those having echocardiography. Of 102 infants having echocardiography, 49 (48%) had heart defects; 47 of these had trisomy 21 and 2 had unbalanced translocation karyotypes. Of the 53 (52%) who did not have heart defects, all had trisomy except 1 with a mosaic karyotype and 1 with a translocation karyotype. The most common heart malformation was an atrioventricular canal, followed in frequency by ventricular septal defect, atrial septal defect, patent ductus arteriosus, and tetralogy of Fallot. Benefits of echocardiography in such infants are early detection of CHD, with aggressive management to prevent future complications, and reassurance to parents if the infant does not have CHD.
 ...
PMID:Congenital heart disease in infants with Down's syndrome. 802 5

A patient with psychomotor developmental delay, multiple minor anomalies, congenital heart disease and left inguinal hernia is reported. His karyotype was 45,X/46,X,+mar (3:37 cells), and the marker chromosome was identified as t(Y;11)(q12;q14?) using fluorescence in situ hybridization and fluorescent chromosome painting. He was diagnosed as mosaic for de novo 11q trisomy.
 ...
PMID:11q trisomy detected by fluorescence in situ hybridization. 813 5

Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is associated with congenital anomalies of the gastrointestinal tract, an increased risk of leukemia, immune system defects, and an Alzheimer-like dementia. Moreover, DS is a model for the study of human aneuploidy. Although usually caused by the presence of an extra chromosome 21, subsets of the phenotypic features of DS may be caused by the duplication of small regions of the chromosome. The physical map of chromosome 21 allows the molecular definition of the regions duplicated in these rare cases of partial trisomy. As a first step in identifying the genes responsible for individual DS features and their pathophysiology, a panel of cell lines derived from 16 such individuals has been established and the molecular break points have been determined using fluorescence in situ hybridization and Southern blot dosage analysis of 32 markers unique to human chromosome 21. Combining this information with detailed clinical evaluations of these patients, we have now constructed a "phenotypic map" that includes 25 features and assigns regions of 2-20 megabases as likely to contain the genes responsible. This study provides evidence for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation. This strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the DS phenotypic features.
 ...
PMID:Down syndrome phenotypes: the consequences of chromosomal imbalance. 819 71

The bicuspid aortic valve is the most frequent congenital cardiac malformation; it may be isolated or associated with other congenital heart disease. The present investigation consists of a study of bicuspid aortic valves in 1022 heart specimens belonging to the anatomical collection of the Institute of Pathological Anatomy of the University of Padua. A bicuspid aortic valve was observed in 95 specimens. It occurred as an isolated congenital cardiac defect in 28 cases, seven of which had spontaneous laceration of the aortic valve (aortic dissection). It was associated with other congenital cardiac malformations in 67 out of the remaining 994 specimens (6.7%), 41 of which (61.2%) showed obstruction of the aortic arch. The frequency of bicuspid aortic valve in specimens with complete transposition of great arteries was only 1%. Bicuspid aortic valve was particularly frequent in association with ventricular septal defect and was significantly more frequent in cases with (51.1%) than in cases without (20.5%) aortic arch obstruction (p < 0.001). There was no significant relationship between the occurrence of bicuspid aortic valves and left ventricular outflow tract obstructions or mitral valve malformations. The morphology of the pulmonary valve was also examined. Concurrence of a bicuspid aortic and pulmonary valve was detected in 11 specimens, five of these had trisomy-18. Our findings cast doubt on the assumption that altered fetal blood flow through the aortic valve may be the main factor producing the bicuspid condition. Indeed, they rather support the hypothesis that most bicuspid aortic valves are expressions of a developmental complex that affects the aortic arch and the wall of the ascending aorta as well as the aorta valve.
 ...
PMID:Bicuspid aortic valves in hearts with other congenital heart disease. 861 73

A 31-year-old female is reported with mild to moderate mental retardation, facial dysmorphy, congenital cardiopathy, and mild thrombocytopenia as the most important clinical findings. Chromosome analysis in lymphocytes showed a de novo dir dup (11)(q13.3-->14.2), by both G-banding and FISH techniques. Previously reported constitutional duplications of 11q are mostly the result of unbalanced translocations involving chromosome 11q, and are associated with a partial monosomy or trisomy of the translocation partner chromosome. In case of an unbalanced translocation it is not clear which clinical findings result from the chromosome 11 duplication and which result from the abnormality on the translocation partner chromosome. This is the first report on a constitutional duplication of chromosome region 11q13.3-->14.2 without involvement of other chromosomes.
 ...
PMID:De novo 46,XX, dir dup (11)(q133.3-->q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia. 882 87

We present a 34-year-old man with an unbalanced translocation between the long arms of chromosome 4 and chromosome 11. He had manifestations of monosomy 11(q23)--minor facial anomalies, abnormal head shape, cryptorchidism; trisomy 4(q32)--hirsutism, renal disease; and manifestations attributable to both imbalances--heart disease, musculoskeletal anomalies, and mental retardation. FISH studies showed that the chromosome 11q23.3 translocation breakpoint was distal to the rare folate sensitive fragile site (FRA11B). The patient is the oldest reported with both imbalance of 4q+ and 11q-.
 ...
PMID:Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes. 918 74


<< Previous 1 2 3 4 5 6 Next >>