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Results for “Chromosome Disorders”

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At least 127 records · Page 7Linked to original sources
PubMed1995

[Brain ultrasonography in diagnosis of intrauterine infections and of neonatal chromosomal disorders].

Ultrasonography of the brain is a primary, frequently used technique for the diagnosis of brain lesions in the neonate. Echogenic blood vessels in the thalamus and basal nuclei are an unusual finding in an ultrasonographic homogeneous area. We describe 2 neonates with echogenic blood vessels in this area who are, to our knowledge, the first such cases described in Israel: 1 with trisomy 13 and the other with a congenital cytomegalovirus infection. We focus pediatric attention on this simple, readily available method for diagnosing intrauterine infections and chromosomal aberrations in the neonate.

Abnormalities, Multiple↗
PubMed1982

[Frequency of chromosome disorders occurring in human lymphocytes in the in vitro exposure to different doses of deuterons as protected by adeturon].

Peripheral blood of 4 healthy donors was exposed to deutrons with the energy 4,2 GeV/nuclone and the intensivity of 4 to 6.10(10) particles per impulse, the capacity of the dose being 0,008 Gr/sec. The LPE of deutrons was 2,14 MeV sm2/g. Irradiation doses were 0,26; 0,49; 0,97; 2,02; 3,80 Gr. 15-20 min prior to irradiation, the protector adeturone was added at a concentration of 550 micrograms/ml of blood. Chromosome aberrations were analyzed in protected and unprotected blood samples. The results were treated using the method of variance and regression analysis. The correlative correspondence between the number of chromosome aberrations and an approximate dose of actual irradiation was established as Y = 0,13 d + 6,55.10(-4) D2 for dicentrics and as 0,26 D + 12,6.10(-4) D2 + 4,5 for the total percentage of aberrations. The pattern of the dose - effect dependence was retained in protected samples. The calculated values of the factor of dose decrease confirmed antiirradiation properties of adeturone.

Adenosine Triphosphate↗
PubMedDate not supplied

Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges.

Three cases (2 boys, 1 girl) of trisomy 12p syndrome are reported. In two, the disorder is caused by a malsegregation of a maternal translocation, the karyotype being 46,XY,der(18),t(12;18)(p11;q23) (case 2) and 46,XX,-10,+ der(10),t(10;12)(p15;p11) (case 3). Case 1 is a de novo case with a regular trisomy 12p in the fibroblasts: 47,XY + (12pter----12 cen. . .?) and a mosaic trisomy 12p in lymphocytes: 46,XY/47,XY, + (12pter----12 cen. . .?). In all cases, the EEG showed 3-Hz generalized spike and wave (SW) discharges. Generalized epilepsy with myoclonic seizures was present in two patients (cases 1 and 2), who may be considered to have a symptomatic generalized epilepsy with a specific etiology. Case 3 has shown only febrile seizures. Any association between the excess of genetic material and the EEG trait "generalized SW" might not be a chance occurrence in this disorder; however, both EEG findings and clinical features (seizure type and frequency) in the 23 cases reported in the literature are too scanty to allow confirmation of such an association.

Brain↗
PubMed1995

4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern.

We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12-p13 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12-p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.

Angelman Syndrome↗
PubMed1988

Skeletal anomalies in trisomy 21 as an example of amplified developmental instability in chromosome disorders: a histological study of the feet of 21 mid-trimester fetuses with trisomy 21.

In a previous radiographic study on the feet of 71 adults with trisomy 21 we found, in comparison to control individuals, an increased prevalence of biphalangeal toes and metatarsophalangeal sesamoid bones. The present histological study on the feet of 21 mid-trimester fetuses with prenatally diagnosed trisomy 21 confirms results of the earlier study. At both stages of development these minor bone anomalies have about the same frequency, thus suggesting 1) that they are selectively neutral, and 2) that they reflect a basic (innate) failure of ordered morphogenesis. Our observation that the normal spatial pattern of skeletal variants is reproduced in trisomy 21 simply on a quantitatively higher level lends sound support to the hypothesis of amplified developmental instability in chromosome trisomies.

Adult↗
PubMed1984

Developmental pathogenesis of chromosome disorders: report on two newly recognized signs of Down syndrome.

Testing the hypothesis of amplified developmental instability in autosomal trisomies as proposed by Shapiro we predicted and found an increased frequency of symphalangies in the toes of patients with Down syndrome. In our X-ray study of the feet of 71 adults with trisomy 21 we also detected a greater than normal number of sesamoid bones. A corollary to Shapiro's hypothesis is a dependence on ethnic origin of the frequency of symptoms in Down syndrome. Compared to data from Europe, toe symphalangies are more prevalent in Japan. We predict this anomaly to occur even more often in Japanese patients with trisomy 21.

Adult↗
PubMed1984

A patient, mosaic for Rh and Fy antigens lacking other signs of chimerism or chromosomal disorder.

A patient who shows two populations of RBC, differing in their Rh and Fy antigens, was investigated but no other sign of chimerism or mosaicism in a variety of other antigenic systems, including serum and enzyme polymorphisms and HLA antigens, was observed. His karyotype, as investigated on lymphocyte and fibroblast cultures, was normal. Possible explanations of the observed phenomenon are discussed.

Alleles↗