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1.
Egyptian Journal of Medical Human Genetics [The]. 2009; 10 (2): 238-242
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-97446

RESUMO

To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood. Review will be included. Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed. Multiple congenital anomalies including craniofacial features, central nervous, cardiovascular, skeletal, gastric and urogenital systems because of chromosomal abnormality which indicated: 47, XY, inv [9] [p12; q13]+inv [9] [p12; q13] mat. Our case could be a new case of apparently complete trisomy 9 syndrome with unusual findings


Assuntos
Humanos , Recém-Nascido , Cariotipagem , Aberrações Cromossômicas , Hibridização in Situ Fluorescente
2.
Egyptian Journal of Medical Human Genetics [The]. 2008; 9 (1): 131-133
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-86380

RESUMO

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


Assuntos
Humanos , Masculino , Deficiência Intelectual , Articulação Metacarpofalângica/anormalidades , Encéfalo/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Análise Citogenética , Bandeamento Cromossômico
3.
Egyptian Journal of Medical Human Genetics [The]. 2007; 8 (2): 199-208
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-82408

RESUMO

The partial chromosome 8p duplication is a rare syndrome and is associated with a characteristic phenotype, including multiple congenital anomalies and mental retardation of various degrees. However, different outcomes depend on the size and location of the duplicated area. We present clinical and cytogenetic data of 5 Arab patients with de novo inversion duplication of 8p. This report provides additional cases to the growing literature


Assuntos
Humanos , Masculino , Feminino , Fenótipo , Deficiência Intelectual , Análise Citogenética , Literatura de Revisão como Assunto , Aberrações Cromossômicas
4.
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 89-96
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-76552

RESUMO

A rare case of de novo interstitial deletion of the long arm of chromosome 21 involving 21q22.13-q22.22 is described here. This finding was detected by high resolution banding techniques and then confirmed by FISH study. The phenotypic abnormality was to some extent similar to that previously found in cases reported with deletion of 21q, spanning the long arm of chromosome 21 from the centromere to 21q22. This is the first reported case at Kuwait Medical Genetics Centre with abrasion involving this region. It supports what was previously suggested that the critical region for full phenotype expression lies distal to 21q21, within 21q22.1-q22.2


Assuntos
Humanos , Masculino , Cromossomos Humanos Par 21 , Fenótipo , Análise Citogenética , Aberrações Cromossômicas , Hibridização in Situ Fluorescente , Monossomia
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