RESUMO
Total activities of acid hydrolases in liver of two patients with mucopolysaccharidosis are decreased for beta-galactosidase, alpha-galactosidase, and arylsulfatase A; total activities of four other hydrolases are normal or increased. The isoenzyme distribution of five hydrolases (beta-glucuronidase, alpha-glucosidase, beta- galactosidase, N-acetyl-beta-glucosaminidase, and alpha-galactosidase) is ábnormal in that the isoelectric points (by isoelectric focusing) of these enzymes are more acid than in control liver. Along with the isoenzyme abnormalities different kinds of glycolipids were stored in kidney, liver, and brain. The isoenzyme abnormalities can be reproduced in vitro by addition of chondroitin sulfate to a homogenate of normal liver, suggesting that stable binding occurs between mucopolysaccharides and the hydrolase molecules. After the addition of chondroitin sulfate, the total activity of beta-galactosidase is inhibited, whereas other hydrolases are affected only slightly or not at all.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/enzimologia , Glicosaminoglicanos/metabolismo , Hidrolases/análise , Deficiência Intelectual/enzimologia , Mucopolissacaridoses/enzimologia , Retinose Pigmentar/enzimologia , Química Encefálica , Galactosidases/análise , Glucuronidase/análise , Glicolipídeos/análise , Hexosaminidases/análise , Humanos , Focalização Isoelétrica , Isoenzimas/análise , Rim/análise , Fígado/análise , Fígado/citologia , Fígado/enzimologia , Lisossomos/enzimologia , Sulfatases/análiseRESUMO
A new bacterial rosette technique for enumerating T lymphocytes is described. E. coli (strain B; ATCC 11303), fixed in formaldehyde after overnight growth in thioglycolate medium, are mixed with washed whole blood cells (100 microliters) and after incubation at 4 degrees C, slides are made, stained and counted. The nature of the lymphocytes forming E. coli rosettes was demonstrated by comparing their cytochemical staining characteristics with those of E rosetted lymphocytes, and by mixed E. coli and E, mouse E rosette and Fc receptor tests, and by mixed E. coli rosette tests and anti-Ig staining. E. coli and E rosette tests in controls and pediatric patients were also compared. The results show that T mu and T gamma cells rosette with E. coli.
Assuntos
Linfócitos T/imunologia , Linfócitos B/citologia , Linfócitos B/imunologia , Escherichia coli/imunologia , Humanos , Formação de Roseta , Coloração e Rotulagem , Linfócitos T/citologiaRESUMO
The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 12 , DNA/genética , Deficiência Intelectual/genética , Mosaicismo/genética , Células Cultivadas , Criança , Pré-Escolar , Feminino , Fibroblastos/fisiologia , Fluorescência , Humanos , Recém-Nascido , Recém-Nascido Prematuro/fisiologia , Cariotipagem , Masculino , Hibridização de Ácido Nucleico , SíndromeRESUMO
Pentasomy 21 was found to characterize the proliferating cells in a case of transient congenital acute leukemia (or congenital acute leukemia) with spontaneous remission. The patient was phenotypically normal, and cytogenetically no evidence could be found for the existence of a mosaic with a normal cell line and one with more than two No 21 chromosomes. The importance of these findings is discussed.
Assuntos
Cromossomos Humanos 21-22 e Y , Leucemia/congênito , Regressão Neoplásica Espontânea , Poliploidia , Doença Aguda , Humanos , Recém-Nascido , Leucemia/genética , Reação Leucemoide/genética , MasculinoRESUMO
A mentally retarded boy with narrow cranium, high forehead, epicanthic folds, flat nasal bridge, low-set but normal ears, retrognathy, short neck and broad chest with wide-set nipples is described. The routine chromosome and banding analyses revealed a 46,XY,8p- chromosome constitution. The parents had normal chromosomes. On the basis of measurements on reflectodensitometer tracings and of measurements of the individual G-bands directly on photographic prints of the normal and abnormal chromosome 8, an intercalary deletion of band p22 seemed most probable. The clinical features of the patient are compared with the 8p- case of Lubs & Lubs (1973) as well as with four other cases of short arm deletion of an unidentified C-autosome. The clinical features of one of these cases were very similar to those of the boy described. An attempt was made to delineate the clinical characteristics of this new chromosomal deletion syndrome.
Assuntos
Aberrações Cromossômicas , Deleção Cromossômica , Transtornos Cromossômicos , Cromossomos Humanos 6-12 e X , Criança , Pré-Escolar , Disostose Craniofacial/genética , Dermatoglifia , Humanos , Lactente , Deficiência Intelectual , MasculinoRESUMO
A girl is described, who, upon her first admission to our pediatric department in 1965, was supposed to have G-deletion syndrome II on the base of the chromosome findings in routine orcein-stained preparations and her clinical aspect. When, however, in 1972 a Q- and G-banding analysis was performed, the patient seemed to be a t(14q+; 22q-) translocation carrier. These findings are discussed in relation to the known heterogeneity of the clinical picture of patients previously reported as having a G-deletion syndrome and in whom no banding studies were done. Finally, the need for more extensive studies with the different techniques is stressed, particularly, in cases of Gq- chromosomes, of which the familial occurrence is suggestive of a hidden reciprocal translocation.
Assuntos
Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos 13-15 , Cromossomos Humanos 21-22 e Y , Translocação Genética , Criança , Pré-Escolar , Dermatoglifia , Feminino , Seguimentos , Humanos , Lactente , Cariotipagem , Coloração e RotulagemRESUMO
Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of the G- and Q-banding patterns revealed in each patient a 12p-- chromosome. The deletion involved most of band p12 as shown by length measurements on G-banded chromosomes. Both cases were compared to proven and presumed cases of 12p-- from literature, but no common clinical phenotype could be demonstrated.
Assuntos
Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos 6-12 e X , Craniossinostoses/genética , Humanos , Deficiência Intelectual/genética , Masculino , Atrofia Óptica/genética , Osteogênese Imperfeita/genética , FenótipoRESUMO
A new case of the trisomy 3p syndrome is described. The propositus showed mental and growth retardation and many of the congenital anomalies typical of this syndrome. Chromosome analysis in the propositus revealed an enlarged short arm of chromosome 4. In the mother a similar chromosome 4 was found and, in addition, an abnormal chromosome 3 with a deleted short arm. The karyotype of the mother was interpreted as resulting from a balanced insertional translocation. GTG bands p21 and p22 of chromosome 3 were inserted into the short arm of chromosome 4.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos 1-3 , Trissomia , Bandeamento Cromossômico , Transtornos Cromossômicos , Humanos , Lactente , Cariotipagem , MasculinoRESUMO
Two unrelated patients are presented. In the first mosaicism with normal cells and cells trisomic for the distal long arm (q2) of chromosome 15 was found. The 15q2 trisomy was due to a chromosome 14, to the long arm of which an extra 15q2 region was attached (14pter----14q32::15q22----15qter). In the second trisomy 15q2 was present as a consequence of a balanced t(7;15)(p22;q15) translocation in the mother.
Assuntos
Cromossomos Humanos 13-15 , Mosaicismo , Trissomia , Bandeamento Cromossômico , Feminino , Humanos , LactenteRESUMO
A boy is described, who shares many of the clinical features found in the few patients with a partial 17q trisomy known at present. Karyotyping revealed a de novo 17q+ chromosome, interpretable as a tandem duplication of the distal long arm region 17q25.
Assuntos
Cromossomos Humanos 16-18 , Trissomia , Pré-Escolar , Bandeamento Cromossômico , Face/anormalidades , Humanos , MasculinoRESUMO
A girl with slight psychomotor retardation, microphthalmia, and colobomata of the left eye, a hypotrophy of the right arm and a surnumerary digit on the right hand is described. The routine chromosome analysis and a G-banding analysis revealed an elongated long arm of chromosome 10. An extra light and dark band was present proximally. Both parents had normal chromosomes. While the visual comparison of the abnormal with the normal chromosome 10, did not enable the extra bands of the normal bands q21 and q22 to be distinguished. However, measurements of length, surface area, and relative reflection of the different light and dark bands of the long arm on tracings or directly on the normal and abnormal chromosomes, enabled us to precisely locate the extra bands and to determine that the abnormal chromosome was a result of an insertional translocation. The value of such measurements is discussed.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos 6-12 e X , Translocação Genética , Braço/anormalidades , Coloboma/genética , Dermatoglifia , Feminino , Dedos/anormalidades , Humanos , Deficiência Intelectual/genética , Microftalmia/genéticaRESUMO
An elongated long arm of chromosome 14 was found in a male child. GTG-banding analysis indicated a tandem duplication (q24 leads to q32). The child showed several congenital anomalies in common with the ten cases of distal trisomy 14q, known at present.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos 13-15/ultraestrutura , Trissomia , Anormalidades Múltiplas/patologia , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Humanos , Lactente , Cariotipagem , MasculinoRESUMO
A boy with a de novo translocation (5;22) and isochromosome 5p associated with a pericentric inversion of chromosome 2 (p21q11) is described. The pericentric inversion was also present in the mother. The main clinical features of the 'complete trisomy 5p' syndrome were present in the proband.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos 4-5 , Trissomia , Deleção Cromossômica , Cromossomos Humanos 1-3 , Cromossomos Humanos 21-22 e Y , Humanos , Recém-Nascido , MasculinoRESUMO
The beta-glucuronidase staining characteristics of isolated T cell populations and the Tmu and T gamma enriched fractions derived of them were studied. T gamma lymphocytes were obtained from purified T lymphocytes by ox-IgG rosette sedimentation. The rosette-forming cells in the pellet were referred to as T gamma lymphocytes, whereas the lymphocytes in the interface were referred to as T gamma depleted or Tmu lymphocytes. B cells were studied on rosetted mononuclear cells with either mouse erythrocytes or with Staphylococcus Aureus (Cowan I) bacteria, after a preceeding polyvalent anti-human Ig treatment of the cells. While B cells showed mostly no reactivity, Tmu and T gamma cells were respectively characterised by a "dot-like" and "granular" pattern of reactivity. These findings are in agreement with those observed by others after alpha-naphthyl-acetate esterase or acid phosphatase staining. Within the T lymphocyte fraction, the T non-mu, non-gamma lymphocytes seemed to have a granular pattern of reactivity. The same staining pattern was found in non-B, non-T lymphocytes.
Assuntos
Linfócitos B/enzimologia , Glucuronidase/sangue , Linfócitos T/enzimologia , Histocitoquímica , Humanos , Receptores Fc , Receptores de IgG , Coloração e Rotulagem , Linfócitos T/classificação , Linfócitos T/imunologiaRESUMO
A review of 63 patients with 45X karyotype (Turner's syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15%) other patients who died had a typical hypoplastic left heart syndrome, with an atretic aortic valve in two and pinpoint aortic valve in one. Turner's syndrome was clinically suspected in three of the cases. One of these had mosaicism (46XX,45X) the others had a 45X pattern. During the same period (1972-85) 39 patients (14 girls and 25 boys) were admitted with diagnosis of hypoplastic left heart syndrome. Three (21.4%) girls had a 45X karyotype. The high incidence of hypoplastic left heart syndrome in Turner's syndrome and of Turner's syndrome in girls with hypoplastic left heart syndrome suggests that hypoplastic left heart syndrome can be another expression of the 45X karyotype.
Assuntos
Cardiopatias Congênitas/genética , Síndrome de Turner/genética , Feminino , Cardiopatias Congênitas/complicações , Humanos , Recém-Nascido , Cariotipagem , Masculino , Síndrome , Síndrome de Turner/complicaçõesRESUMO
A mentally retarded boy with short stature, craniofacial dysmorphia, clubfeet, hypertonia and several other congenital anomalies is described. Chromosome analysis revealed a trisomy 10p, due to a peculiar t(10 ; 14) (p11 ; p12) translocation.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos 6-12 e X , Translocação Genética , Trissomia , Humanos , Recém-Nascido , Cariotipagem , MasculinoRESUMO
A Y;12 translocation, resulting in extra Yq material and partial monosomy 12p, was found in a 7 1/2 year old boy. He showed growth and mental retardation and several of the congenital anomalies seen in the 12p deletion syndrome. LDHB activity, the gene for which is located at 12p12, was normal in serum, in accordance with the suspected 12p13 deletion in the patient.
Assuntos
Cromossomos Humanos 6-12 e X , Translocação Genética , Cromossomo Y , Criança , Bandeamento Cromossômico , Deleção Cromossômica , Nanismo/genética , Humanos , Isoenzimas , L-Lactato Desidrogenase/genética , Masculino , Monossomia , SíndromeRESUMO
A girl is described for whom an unusual chromosome constitution was found and who had a peculiar congenital heart defect. The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases. In addition, the girl had an incomplete harelip, a cleft palate and a peculiar congenital heart defect, a ventricular septal defect with pulmonary valve stenosis and a marked hypoplasia of the pulmonary trunk, including the bifurcation. Chromosome analysis revealed a mosaicism with normal and abnormal mitoses (47 chromosomes). The extra chromosome was a metacentric E16-like chromosome, which on the basis of the G, R, Q and Giemsa-11-banding could be identified as an isochromosome of the short arm of chromosome 9 (46,XX/47,XX, +i (9) (pter leads to cen leads to pter)). The patient consequently had a partial tetrasomy of the short arm of chromosome 9.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos 6-12 e X , Trissomia , Aneuploidia , Fissura Palatina/genética , Face/anormalidades , Feminino , Cardiopatias Congênitas/genética , Humanos , Lactente , Recém-Nascido , Cariotipagem , Lábio/anormalidades , Mosaicismo , LinhagemRESUMO
A new case of the 9p- chromosome-deletion syndrome is described. The 9p-chromosome, identified by the G-, R-, Q- and G11-banding techniques, showed mainly a deletion of bands p23 and p24. Routine chromosome analysis and banding studies in the parents revealed normal chromosomes in the mother and a balanced t (9p-; 15q+) translocation in the father. The main clinical features of the proband are narrow cranium, prominent forehead, flat occiput, hyperteloris, flat bridge of the nose, long upper lip, micrognathia, low-set and abnormal ears, short, broad neck, wide-set nipples, systolic murmur, umbilical hernia, diastasis musculi recti, short arms and broad thumbs, equinovarus adductus, hypotonia and psychomotor retardation. These clinical findings are compared with those of the three 9p- cases found in the literature.
Assuntos
Anormalidades Múltiplas , Aberrações Cromossômicas , Deleção Cromossômica , Transtornos Cromossômicos , Cromossomos Humanos 13-15 , Cromossomos Humanos 6-12 e X , Feminino , Ligação Genética , Humanos , Lactente , Crânio/anormalidades , Translocação GenéticaRESUMO
beta-D-N-acetylglucosaminidase staining characteristics of rosetted or non-rosetted normal and malignant lymphoid cells were compared with those observed after nonspecific esterase and acid phosphatase staining. With the three cytochemical techniques a similar staining pattern was observed in T cells (E-rosettes), their subpopulations T mu and T gamma, B cells and the non-T, non-B cells, as well as in the T cell populations defined with the monoclonal antibodies OKT3,4 and 8. T mu cells mostly displayed a "dot-like" reaction, T gamma and the non-T, non-B cells a "fine to heavy granular" reaction, while most B cells were negative. OKT4 and OKT8 positive lymphocytes showed for the larger part a dot-like staining pattern, however, the frequency of cells with a granular pattern was distinctly higher in the OKT8, than in the OKT4 positive cells. E(+)mIg(-) and E(-)mIg(-) A.L.L. blasts stained either with a dot-like or granular pattern or failed to react when stained cytochemically for beta-D-N-acetylglucosaminidase, nonspecific esterase and acid phosphatase activity. Only in a few instances a discrepancy was observed between the types of staining for esterase and acid phosphatase on one hand and those for beta-D-N-acetylglucosaminidase on the other.