Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 6 de 6
Adicionar filtros

Tipo de estudo
Intervalo de ano
Egyptian Journal of Medical Human Genetics [The]. 2008; 9 (1): 131-133
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-86380


This report describes a Kuwaiti boy with Acrodysostosis. This disorder is characterized by short nose, open mouth, prognathism and short hands/feet. Mental deficiency is frequent and cone epiphyses occur in this condition. Clinical examination, skeletal survey, echocardiography, ultra-sonography and chromosomal analysis were carried out. On examination he had short stature mainly acromelic and the hands did not show the trident sign of dyschondroplasia. He had also a characteristic facies with broad/flat nasal bridge, short nose with upturned nostrils, congenital heart [VSD] and mental retardation. Radiographic examination showed acromelia, cone-shaped epiphyses of bones of hands/feet and scoliosis of thoracolumber region of the spine. CT-scan brain showed mild ventriculomegaly and brain atrophy. Our patient could be a typical case of acrodysostosis with auto-somal dominant mode of inheritance

Humanos , Masculino , Deficiência Intelectual , Articulação Metacarpofalângica/anormalidades , Encéfalo/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Análise Citogenética , Bandeamento Cromossômico
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 83-88
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-76551


Herein, we describe the molecular defects in the Norrie disease [ND] gene in a Kuwaiti Bedouin family with three affected sibs. Norrie disease is a rare X-linked recessive disorder, characterized by congenital blindness, malformed retina, psychomotor delay and deafness in a proportion of patients. We analyzed the genomic DNA through polymerase chain reaction [PCR] and restriction fragment length polymorphism [PCR-RFLP] approach. We have found the presence of R121W mutation within exon 3. We have identified a single base pair substitution [C>T] mutation of ND gene

Humanos , Masculino , Genes Recessivos/genética , Transtornos Psicomotores , Surdez , Impressões Digitais de DNA , Reação em Cadeia da Polimerase , Mutação de Sentido Incorreto
Egyptian Journal of Medical Human Genetics [The]. 2004; 5 (1): 97-102
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-65725


This report describes a case of osteopathia striata with cranial sclerosis [OS-CS] in a Bedouin girl. This patient to our knowledge is the first case to be reported in KMGC, throwing light on the clinical and radiological findings. Clinical examination, skeletal survey, echocardiography, ultrasonography and chromosomal study. The patient had craniofacial dysmorphic features including overgrowth of the craniofacial bones which is characteristic of the disorder, developmental delay, hearing impairment, congenital heart [VSD] and she had also repeated attacks of seizures. Radiographic findings included marked ossification and sclerosis of the base of the skull and metaphyseal widening of long bones with linear striations. In the few reported cases of OS-CS all over the world, our case could have the typical form of the syndrome with dominant inheritance and the first case to be described in Kuwait

Humanos , Feminino , Cardiopatias Congênitas , Surdez , Deficiências do Desenvolvimento , Convulsões , Aberrações Cromossômicas
Alexandria Journal of Pediatrics. 1999; 13 (2): 327-331
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-50198


Two unrelated phenotypically males with 46,XX karyotype are presented. The first patient is 5.5 year old who presented with congenital undescended testis while the other patient is 35 year old who has infertility since 6 years. Hormonal profile of the second patient is consistent with hypergonadotrophic hypogonadism with low testosterone level. The first patient's profile revealed a picture consistent with 21-hydroxylase deficiency. FISH technique using [Quint-Essential-Y-specific DNA probe] specific for Yp11.2 region was applied on metaphase spreads revealed the presence of Yp11.2 sequence on the short arm of the X chromosome in the second patient while it was absent in the first patient. DNA analysis of both patients using SRY gene amplification revealed the existence of SPY gene in the second patient and absence of the gene in the first patient. The possible underlying mechanisms for sex reverse in both cases are discussed

Humanos , Masculino , Masculino , Análise Citogenética , Hibridização in Situ Fluorescente , Reação em Cadeia da Polimerase , Criança
Alexandria Journal of Pediatrics. 1999; 13 (2): 365-370
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-50204


To correlate the site and size of dystrophin gene deletion with the clinical picture in patients with dystrophinopathies. The dystrophin gene is one of the largest known genes. More than half of the dystrophinopathy cases are associated with intrageneic deletions. The importance of the study arises from the fact that dystrophin cDNA probes provide a direct method of genetic diagnosis. This is the first study in an Arab population and only the second to use a three multiplex PCR method. Kuwait Medical Genetic Centre and Faculty of Medicine -Ain Shams University, Egypt Fifty-two patients with dystrophinopathies [50 with Duchenne muscular dystrophy [DMD] and 2 with Becker muscular dystrophy [BMD] from both Kuwait and Egypt were ascertained. Dystrophin gene deletions were detected using three multiplex reactions. DNA analysis showed that 71.4% of the patients had deletion of the dystrophin gene while 28.6% showed no deletion. 24.5% had two deleted exons while 14.3% had only one deleted exon. The most common deleted exons among the Kuwaiti patients were 81,45 and 48 while exons 19, 45, 48 and 51 were found more commonly deleted among the Egyptian patients. The onset of walking was not changed by the number of exons deleted except when five exons were deleted. However, delayed onset of walking was observed when exon 48,51 and 45 were deleted [r=0.6078, and p=0.110]. On the other hand, the average onset of weakness was neither correlated to the number of the exons deleted or to the deletion sites. Similar results were obtained regarding the average onset of wheel chair dependency. There was a slightly lower IQ with deletion of exons 48,45 and 12 but in general there is no correlation between the IQ and the site or the frequency of the deletion. Study of the intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets revealed that 78%, 76% and 12% of DMD patients had deletion of each of the three sets separately. With all three sets together, the detection of deletion rate was increased to 86%. Fifty percent of the deleted exons were located in the distal hot spot, 8% in the proximal hot spot while 42% were scattered over both sides of the hot spot. No significant correlation was found between the size/site of the dystrophin deletions and the clinical severity. A multi centre larger study is recommended for a better understanding of the genotype-phenotype correlation

Humanos , Masculino , Feminino , DNA , Éxons , Deleção de Genes , Distrofina , Genótipo , Fenótipo , Testes de Inteligência
Alexandria Journal of Pediatrics. 1999; 13 (2): 371-377
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-50205


Duchenne and Becker muscular dystrophies [DMD and BMD] are one of the most common X-Linked disorder in human which are caused by mutations of the dystrophin gene located on the X chromosome. This study was carried out in both Kuwait and Egypt. Fifty two patients with dystrophinopathies were examined from both Kuwait and Egypt in order to [1] study some characteristic features of those patients and [2] identify gene deletions among them. Twenty six patients were selected randomly from both Kuwait and Egypt A special questionnaire including all relevant data was designed for this study. All patients were subjected to all relevant investigations including DNA analysis and muscle biopsy analyzed with three dystrophin monoclonal antibodies. The statistical package for social science [SPSS], Z test, Chi square test and Student t test were used for statistical analysis. There was a significant difference between the Kuwaiti and Egyptian patients regarding maternal age [P<0.005] but not for paternal age. The onset of walking was delayed in 40.6% of the cases while the onset of weakness was noticed in 19.3% of the Kuwaiti patients before 2 years of age. Wheel chair dependency was observed in 88.8% between the age 7-12 years. In both groups 82% have an IQ above 70 and 26% had lQ above 100. ECG abnormalities were seen in 77.8% of the patients. DNA analysis showed that 71.4% of the patients had a deletion in the gene while 28.6% had no deletion. Two deleted exons were found in 24.5% and 14.3% had only one deleted exon. The most common deleted exons among Kuwaiti patients were 8, 45, 48 while exons 19, 45, 48 and 51 were deleted more commonly in the Egyptians. Better identification, neonatal screening and DNA examination are urgently needed for precise diagnosis. Proper genetic counseling and prenatal diagnosis are strongly recommended for prevention and management

Humanos , Masculino , Feminino , Inquéritos e Questionários , DNA , Músculos , Biópsia , Anticorpos Monoclonais , Eletrocardiografia , Testes de Inteligência , Diagnóstico Pré-Natal , Aconselhamento Genético