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

The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found. This is in favour of a partial trisomy of chromosome 10. The relative frequencies of the clones constituting the mosaic vary from tissue to tissue and with time.
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PMID:[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)]. 31 77

Recent significant advances in experimental embryology and experimental teratology of the heart contribute to the renaissance in studies of cardiac development. Examples taken from the author's laboratory demonstrate the need for reference points in the description of heart morphogenesis and speak against the existence of conus resorption. The discovery of animal models of congenital heart disease, e.g. Keeshond dog or fetal mouse trisomy, represent another promising opening in studies of pathogenesis of heart anomalies. To permit a reasonable understanding of the univentricular heart following basic questions need to be answered: a) what is the origin of its rudimentary cavity, b) what is the origin of its incomplete muscular septum, c) why are one or both great vessels attached to the rudimentary chamber, d) what determines the position of the rudimentary chamber and e) why may the great vessels be normally or abnormally arranged? The experimental analysis of the proliferative and growth pattern of the right ventricle as well as the studies on embryonic hemodynamic factors are presented as examples of how to approach these fundamental questions.
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PMID:Changing scene in cardiac embryology. 44 92

The comparison of nine examples of trisomy for the distal segment of 11q permits definition of a clinical syndrome which includes the following: axial hypotonia with hypertonia of the limbs; an old-looking wrinkled face; a large beaked nose; microretrognathia with malformation of the palate; low-set ears; a prominent anterior helix; a prominent anthelix; a short neck; a narrow chest with nipples set widely apart; micropenis in the boys; congenital heart disease; renal agenesis or malformations of the urinary tract; agenesis of the thoracic girdle; dysplasia of the acetabulum; clubfeet.
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PMID:[Trisomy 11q. Individualization of a new syndrome]. 108 Sep 82

Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.
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PMID:Trisomy 19 q. 108 17

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, -17, +t (17p; 10q) are described. From an analysis of the phenotypes of these patients and others reported with 10q trisomy, we propose that the trisomy 10q 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthalmia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 10q, are believed to be expressions of a partial monosomy of 17p.
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PMID:Familial partial trisomy of the long arm of chromosome 10 (q24-26). 119 32

A profoundly retarded girl with cyanotic congenital heart disease, recurrent myoclonic seizures, an external strabismus and not very unusual facial features was found to have a 47, XX chromosome complement. The extra chromosome is a small G-size chromosome with small projections extending from the ends of the long arms and no satellites observed on the short arms. By Geimsa-trypsin banding techniques this aberrant chromosome appears to be a partially deleted D 15 chromosome. A comparison of the clinical features is made with those described in the nine other reported specifically identifies cases of 'partial trisomy 15'. For clinical and chromosome morphology reasons, this was felt not to be trisomy in the G group nor an extra Y. We speculate that the long arm projections are satellites derived from a ring-type intrachromosomal translocation.
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PMID:Partial D 15 trisomy. A case and general review. 122 18

Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), "dysplastic" and/or apparently low-set ears (15/15), micrognathia (15/15), short neck (11/12), congenital heart disease (14/15), and micropenis and cryptorchidism (6/6). Other frequent findings were prominent forehead (12/14), hypertelorism (8/13), narrow palpebral fissure (7/9), large mouth (10/14), cleft or highly arched palate (10/14), body asymmetry (8/12), and abnormal skin pigmentation (6/10). Sex ratio was 6M:9F. Four patients died before age 4 months, while at least 2 patients survived through teens. One boy died at age 3 years following cardiac surgery. One girl with tetralogy of Fallot showed a remarkable improvement in health after Blalock-Taussig procedure. Although the surviving patients showed moderate growth and mental retardation, the oldest surviving woman at 29 years demonstrates functional language and appropriate self help skills.
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PMID:Natural history of mosaic trisomy 14 syndrome. 145 90

Congenital heart disease is an integral part of many genetic syndromes such as the major trisomies 13, 18, and 21. Little information, however, is available with reference to the incidence of cardiac anomalies in the trisomy 7 syndromes. Two patients with partial trisomy 7q, one of whom had congenital heart disease, are presented. A review of the literature reveals incomplete description of the cardiovascular abnormalities in the majority of case reports of patients with this syndrome, however, when described it appears that there are no specific defects associated with trisomy 7p and 7q, but only an increased frequency of occurrence. Further clinical and postmortem data regarding details of the congenital heart defects associated with trisomy 7 is required to confirm this preliminary observation.
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PMID:The cardiovascular abnormalities associated with duplicated segments of chromosome 7. 265 84

A girl with severe neonatal hypocalcaemia, thymic hypoplasia, congenital heart disease and mental retardation in combination with a partial monosomy of chromosome 22, del(22)(pter-q11.3), is reported. Nine other patients with an association between partial monosomy 22 and a DiGeorge syndrome have been reported earlier, and this combination probably constitutes a deletion syndrome similar to the Prader-Willi and the aniridia-Wilms' tumour syndromes. However, the deletion of chromosome 22 is mostly due to a translocation, with trisomy for another chromosomal segment. Such a mechanism may explain the different clinical features seen in patients with partial monosomy 22. In the present case there was an unbalanced translocation with a probable trisomy of the short arm of chromosome 20 combined with the partial monosomy 22. Cytogenetic investigation with high resolution banding techniques is indicated in patients with thymic aplasia and suspected DiGeorge syndrome.
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PMID:DiGeorge syndrome in a child with partial monosomy of chromosome 22. 271 36

Foetal and neonatal consequences of exogenous intoxications are nowadays better apprehended especially regarding alcohol. Alcoholism during pregnancy is the cause of the syndrome of foetal alcoholism described in France by Lemoine in 1968 and then by Jones and Smith in 1973. The prevalence of the table is 1 out of 700 to 800 deliveries for the severe forms and concerns especially by not exclusively the most underprivileged sections of the population and shows in: -- a very specific dysmorphy of skull and face and other abnormalities which give to the face a singular and persistent aspect; -- various and frequent malformative abnormalities with a pronounced tendency for cardiopathy. Most of them are latent or of late discovery; -- a constant growth lateness which is also part of the table as well as prematurity and spontaneous abortion. Hypotrophy is moderate, total, and cerebral; -- effects on central nervous system: it is the third overall cause of mental lateness after trisomy and deficiency of neural canal. Other causes and themselves to alcohol to produce these effects that show themselves on badly affected children or dead in utero because of macroscopic and microscopic alterations of numerous cerebral structures. From a clinical view point, they show themselves by abnormalities of the neural canal, a decreasing of the crane perimeter, neonatal neurologic troubles due to deficiency in the first hours of life, followed during the second and third day by a table evoking a weaning syndrome. The evolution on a medium term is characterized by the persistence of the crane and skull dysmorphy modified by parents phenotype, a persistence of the growth lateness leading to dwarfism in the severe forms. In the moderate and medium form thinness and paleness are spectacular and malformations exist in 2/3 of the cases. The neurologic and behaving evolution is documented by some prospective studies. They tend to indicate the persistence for the severe forms of troubles concerning hyperactivity, lack of attention and decreasing of the crane perimeter as well as a main mental lateness in half of the cases. The study made in Roubaix shows that behaving and intellectual troubles are more pronounced when the dysmorphy is marked. The effects of alcohol lead to a syndrome of foetal alcoholism when the level of alcoholization is high which correspond to K. Sulik's experimental data in 1982. On the other hand, a relation dose-effect has not been yet demonstrated except for hypotrophy. This is the same for threshold-dose. There is no residual effects confirming that alcoholism and its intensity during pregnancy have a direct effect upon descendants. As a matter of fact after weaning and recovery children are again normal and normotroph. Pregnancy and especially delivery are privileged period for detection of maternal alcoholism and beginning of a prevention in a view to avoid. These effects during a later pregnancy.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Clinical aspects, epidemiologic progression of fetal alcoholism: a current daily problem]. 280 13


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