الفهرس 
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Abstract
Over the past years there has been revolutionary advances in the approach of congenital anomalies. Our ability to provide accurate genetic diagnoses has allowed appropriate counseling to patients and families. The objective of this study was to address the importance of cytogenetic and molecular cytogenetic studies in congenital limb anomalies.
We studied 30 cases of children & infants attending the Limb Malformation and Skeletal Dysplasia clinic (LMSDC) at the National Research Centre and the Genetics clinic at the Pediatric Hospital, Ain Shams University. Their age ranged from 2 days to 14 years with equal male to female distribution.
All cases were subjected to complete clinical examination and chromosomal studies by GTG banding technique.
Out of the studied cases 10 cases had positive parental consanguinity (33.33%) which is not statistically significant compared to that of the general Egyptian population.
None of the patients had similarly affected members in the family. All of them were sporadic cases.
6 of them had abnormal cytogenetic results (20%)
The first patient had a translocation between chromosome 2 and 7 with a karyotype result 46,XX,t(2;7) (q31;p13), using Array CGH allowed us to locate a microdeletion at cytoband 2q31.1q31.3 and the results were further confirmed by FISH technique.
The second patient was diagnosed as trisomy 8 mosaicism syndrome with karyotype result 47,XX,+8 in 80% of the studied cells and the result was confirmed by FISH technique
The third, fourth and fifth patients were diagnosed as Patau syndrome.
The sixth and final patient with abnormal cytogenetic result was a case of Fanconi Anemia with normal karyotype and positive DEB test for chromosomal breakage.
The rest of the cases showed normal karyotype results which does not exclude the existence of microdeletions, microduplications or missense mutations suggesting the need for molecular testing such as whole exome sequencing or Array CGH which had revolutionarized the diagnostic techniques allowing more precise localization of the genetic defects causing limb anomalies.