Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A newborn female infant presented with hypotonia, joint hyperextensibility, cardiac murmur, macroglossia, and hepatosplenomegaly. Karyotype of the child revealed partial trisomy of chromosome 11p derived from a paternal balanced translocation. Echocardiogram obtained in the newborn period suggested interatrial aneurysm, which was confirmed on post-mortem examination. Interatrial septal aneurysm is a rare abnormality not previously described in partial trisomy 11p.
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PMID:Partial trisomy 11p with interatrial septal aneurysm. Case report and literature review. 387 56

Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet.
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PMID:[Trisomy 5p: a report of 2 cases]. 400 55

The trisomy 5p (5p13----p ter) was identified by G-banding in a proband girl, whose mother was a balanced translocation carrier 46, XX, t(5;8) (p13;p23). Based on the clinical and cytogenetic findings, previously published and our own, it is possible to define a particular phenotype associated with the dup (5p), including (5p13), or the complete short arm. Patients were of similar phenotype: mental retardation, macrocephaly, hypotonia, mongoloid eye slant, low-set ears, depressed nasal bridge, macroglossia, longer fingers, epicanthus, thick cheeks.
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PMID:[A new case of trisomy 5p]. 408 94

An infant chimpanzee (Pan troglodytes) with clinical, behavioral, and cytogenetic features similar to those in Down's syndrome is described. The infant shows retarded growth rate, congenital abnormalities, retarded neurologic and postural development, epicanthus, hyperflexibility of the joints, muscle hypotonia, and trisomy of a small acrocentric chromosome.
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PMID:Autosomal trisomy in a chimpanzee: resemblance to Down's syndrome. 424 Sep 70

Trisomy 17p resulting from a parental translocation t(10;17)(q26.3;p11) was observed in a 22-month-old boy. Analysis of five cases of trisomy 17p from the literature indicates a common malformation pattern: microcephaly, excessive development of the median part of the frontal region, mandibular hypoplasia, permanent opening of the mouth, a high-arched palate, a short, webbed neck, hypotonia, growth retardation, and severe mental retardation. Three abnormal features emphasized by the authors are permanent myosis due to a structural anomaly of the iris; an unusually low blood folate concentration; and an unusual hand configuration, the first four fingers flexed and the little finger extended.
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PMID:[17p trisomy]. 631 71

A 6-month-old boy with trisomy 10pter----q11 is reported. He presented facial dysmorphism very similar to that found on most other cases of trisomy 10p syndrome, dextrocardia, umbilical hernia, hypotonia and mental retardation. The chromosome anomaly was inherited by 3:1 segregation of a balanced maternal translocation, t(10qter----q11 ::14p11----qter).
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PMID:Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter). 654 39

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
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PMID:Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. 674 43

A young unrelated Indian couple produced a baby who had an unusual facies, marked abdominal distension and muscular hypotonia. At 8 weeks cytogenetic investigation revealed what appeared to be trisomy-21. Because this did not agree with the clinical signs the parents were tested and the mother was found to have a balanced translocation between chromosomes 12 and 14; her karyotype was 46,XX,rcp(12; 14)(p11; q11) and it was realized that her son had inherited her translocation chromosome involving the short arms of chromosomes 12 and 14. He thus had trisomy-12p. The present case and 10 others reported in the literature confirm that trisomy-12p produces a recognizable syndrome. Parents carrying a balanced translocation have a 50:50 risk of producing an abnormal infant at every pregnancy because both the trisomic and monosomic conditions may be viable. Amniocentesis for fetal karyotyping must be recommended to the couples concerned.
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PMID:Trisomy-12p syndrome: Family study and prenatal diagnosis. 740 98

We describe a 1-year-old boy with a rare de novo 46,XY/47,XY, + i(5p) mosaicism (ratios 28/3 in peripheral blood lymphocytes and 2/12 in skin fibroblasts). The boy, born after a pregnancy of 34 weeks, had lung hypoplasia, persistent hypotonia, and postnatal growth failure. Craniofacial anomalies were also present. His clinical manifestations correspond to those described in trisomy 5p patients. Prenatal diagnosis on maternal age indication had shown normal male chromosomes in 16 cells in the short term culture of a chorionic villus sampling. Retrospectively, 1 out of 217 cells in this culture showed the i(5p). Several mechanisms could have resulted in the formation of this 46/47, + i(5p) mosaic. Postzygotic local incorrect ligation during chromatid replication, followed by a second replication offers an attractive model on theoretical grounds since it needs only one step to explain both isochromosome formation and mosaicism. Differences between the various tissues in selection pressure on cells with the isochromosome might explain the different ratios of mosaicism found.
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PMID:Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]. 750 82

A 1-year-old male infant was found to have a de novo unbalanced translocation, resulting in trisomy for a portion of the short arm of chromosome 3, i.e. 46,XY,der(7)t(3;7) (p24.1;p22). Previous cases with a so-called "trisomy 3p syndrome" were evaluated by GTG banding, while we attempted to characterize the present case by the FISH-technique. The major clinical features included: dysmorphic ears, decreased muscle tone and seizure episodes associated with fever, which are concordant with "trisomy 3p syndrome". The most common malformations of trisomy 3p syndrome are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and congenital heart defects. Predominantly, the 3p trisomies have been maternally derived and the major mechanism of inheritance is due to a malsegregation of the chromosomes that are involved in a parental balanced translocation. A review of 44 cases from 35 studies revealed that the clinical manifestations have been quite varied, depending upon the amount of 3p2 material in the trisomic state, but interestingly a recognizable pattern of features was obvious in those cases whose cytogenetic findings and clinical histories were known.
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PMID:Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature. 758 45


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