Hepatomegaly: a major clinical sign in some metabolic disorders

This study included 18 cases with hepatomegaly referred to the Human Genetics Department, National Research Centre with a suspicion of a metabolic disorder from 2006 to 2008. The aim of our study was to find out the importance of hepatomegaly as sign for many metabolic disorders and their frequency among other disorders with hepatomegaly. All cases were subjected to clinical and biochemical studies. 12 cases, 66%, [10 males 83.4% and 2 females 16.6%] were diagnosed with a metabolic disease. 8 cases with mucopolysaccharidosis [MPS] [3 cases MPS I, 3 cases MPS II, one case MPS III and one case MPS VI]; one case with glycogen storage disease [GSD]; one case with galactosemia and 2 cases with Niemann-Pick disease type C. 75% of the diagnosed cases showed positive consanguinity and the remaining 25% were three patients with MPS II with an X linked mode of inheritance

Maternal balanced translocation [4;21] leading to an offspring with partial duplication of 4q and 21 q without phenotypic manifestations of down syndrome

We describe an 8-year old female with supernumerary chromosome der[21]t[4;21][q25;q22] resulting in partial trisomy 4q25-qter and partial trisomy 21[pter-q22]. The extra material was originated from a reciprocal balanced translocation carrier mother [4q;21q]. Karyotyping was confirmed by FISH using whole chromosome painting probes for 4 and 21q and using 21q22.13-q22.2 specific probe to rule out trisomy of Down syndrome critical region. Phenotypic and cytogenetic findings were compared with previously published cases of partial trisomy 4q and 21 q. Our patient had the major criteria of distal trisomy 4q namely severe psychomotor retardation, growth retardation, microcephaly, hearing impairment, specific facies [broad nasal root, hypertelorism, ptosis, narrow palpebral fissures, long eye lashes, long philtrum, carp like mouth and malformed ears] and thumbs and minor feet anomalies. In spite of detection of most of the 3 copies of chromosome 21, specific features of Down syndrome [DS] were lacked in this patient, except for notable bilateral symmetrical calcification of basal ganglia. This report represents further delineation of the phenotype-genotype correlation of trisomy 4q syndrome. It also supports that DS phenotype is closely linked to 21q22. Nevertheless, presence of basal ganglia calcification in this patient may point out to a more proximal region contributing in its development in DS, or that genes outside the critical region may influence or control manifestations of DS features

Genetic studies of limb reduction defects

Limb reduction defects are an important group of congenital limb malformations that requires thorough assessment. They can be isolated or associated with other malformations as a part of syndrome. Causes of limb deficiencies include single gene disorders, chromosomal abnormalities or teratogens. However, the etiology remains unknown in many cases. The present study aimed at the proper diagnosis and classification of cases with limb defects referred to the Limb Malformations Clinic, NRC in order to provide accurate and efficient genetic counseling. The study included 22 cases [14 males, 8 females] with limb reduction defects, their ages at presentation ranged between 20 days and 16 years. Detailed history including teratogen exposure and affected family members, three generation pedigree analysis, complete examination of different body systems with specific studies of different parts of the limbs documented by radiological examination, photography and basic anthropometric measurements were conducted for all cases. Dermatoglyphic analysis, cytogenetic studies and other investigations were done whenever indicated. Cases were classified according to Temtamy and McKusick [1] based on both anatomical and genetic considerations into 8 groups; isolated terminal transverse defects [n=5, cases 1-5= 22.7%], terminal transverse defect as a part of syndrome [n=1, case 6= 4.54%], isolated radial defect [n=1, case 7= 4.54%], radial defect as a part of syndrome [n= 7, cases 8-14= 31.8%], isolated ulnar defect [n= 2, cases 15, 16= 9.09%], ulnar defect as a part of syndrome [n= 3, cases .17-19= 13.6%], pre and postaxial defect [n= 1, case 20= 4.54%] and axial defect as a part of syndrome [n=2, cases 21, 22= 9.09%]. The results of this study have shown that limb absence or reduction defects are not an uncommon malformation among Egyptian children. Delineation of the exact cause, correct classification and proper diagnosis are needed to face this disabling chronic problem. Molecular studies are recommended for proper diagnosis, genetic counseling and understanding of the pathogenesis

Reproductive problems and work with vdts clinical and cytogenetic evaluation

For the last ten years, still broader use of computers has been observed in the world and in particular in the Arab world. That involves a large number of different health problems. Introduction of new technology is bound up with wider issues of industrial relations, including job security. Exposure to extremely low frequency electromagnetic field [EMF] is very common and concern about its harmful effects has been raised. Video display terminals [VDTs] are among the most important sources of exposure Reproductive problems had emerged as one of the hazards attributed to work with [VDTGs]. This work aimed at assessing the potential association between [EMF] emitted by [VDTGs] and pregnancy outcome and/or infertility problems through clinical and cytogenetic evaluations. The study included two groups: control group [36 personnel who were employees of both sexes working in King Khalel University hospital, Riyadh. Saudi Arabia. They were selected as healthy, non smokers with [-ve] family history of any genetic disease, and the other group included [80 cases] with reproductive problems referred to the genetic department of the Riadh Medical Complex, Riyadh, Saudi Arabia, in the period of January, 92-January 95. The two groups were selected as [VDTs] users for at least two years and for 15 hours per week. Leach personnel was subjected to full clinical and medical evaluation, pedigree construction and chromosomal analysis. Chromosomal aberrations found in this studied sample was not related to the exposure [VDTs] magnetic fields. This work in agreement with the majority of epidemiological studies suggests that work with [VDTs] is not related to adverse pregnancy outcome or infertility. It highlights some of the newly described proposed causes in this occupational group which can be helpful in evaluating working conditions. Examination of the effects of exposure to higher [EMF] existing at industrial work places is recommended to assure safety in working with the different modern sources of [EMFs]