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Title: Genetic Counselling in Children With Limb Malformations
Author(s): Samia A. Temtamy, Khalil M. Al-Diwany, Amal M. Mohamed, Nagwa Abdel Meguid, Nabil Badran, Lotfy El-Sayed, Samy H. Abu Hashem
Source: Egyptian Journal of Medical Human Genetics, 2000, Vol. 1, No. 1,, 55-72

Abstract: Precise diagnosis is the cornerstone of genetic counselling. A study was conducted on 40 Egyptian children referred because they had congenital limb malformations. Accurate perinatal history, clinical, pedigree and cytogenetic studies were conducted on all cases. The patients were first classified into two main categories: group 1 (37.5%) with limb malformations as isolated anomalies, and group 2 (62.5%) as a part of syndromes. Results showed 00 sex difference among the two groups. Parental consanguinity was significantly higher (40%) in group 2 while it was (20%) in group 1. Positive family history was (40%) in group 1 and (32 %) in group 2. There was no significant history of teratogenic exposure. There was no associated mental retardation in group 1 while (17.5%) of group 2 were mentally retarded. Cardiac anomalies were found in (15%) of group 2 and were absent in group 1. Chromosomal aberrations were absent in group 1 and were noted in (32%) of group 2. Different limb anomalies were represented: polydactyly in 17 (42.5%), brachydactyly in 6 (15%), reduction defects in 6 (15%), syndactyly in 5 (12.5%), displacement in 5 (12.5%) and arachnodactyly in one (0.25%). Autosomal dominant inheritance was found in ] 2 (30%), autosomal recessive in 15 (37.5 %), polygenic or undetermined etiology in 8 (20%) and chromosomal aberrations in 5 (12.5%). Nine autosomal recessive disorders were diagnosed. The preponderance of autosomal recessive etiology is due to high consanguinity rate in our society, which has to be considered in genetic counselling...

Addresses: Department of Human Genetics, National Research Center Department of Pediatrics, Faculty of Medicine, Al-Azhar University..

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Country Code: EG