Percentiles of blood pressure of Egyptian children and adolescents [3-17 years]

Blood pressure [BP] percentiles for Egyptian children and adolescents provide representative Egyptian BP levels and their use may be essential. The present study aimed to determine and describe levels of systolic blood pressure [SBP] and diastolic blood pressure [DBP] across age and gender of 22,072 healthy children and adolescents to drive reference percentiles for BP of Egyptian children and adolescents. It also aimed to assess the association between age, sex, height and BMI with BP in healthy Egyptian children and adolescents. The study is a cross-sectional one, including 22,072 healthy Egyptian children and adolescents [10997 boys and 11075 girls] at age range of 3 to 17 years from nurseries and private schools in Cairo and Giza Governorates. A questionnaire was designed including: Full medical and family history and full clinical examination and Height, weight and BP measurements for all subjects. The study results revealed that both systolic BPand Diastolic BP were significantly higher in Egyptian children compared to other ethnic groups and that BP is influenced by gender, age and height and body mass index [BMI]. The study recommends development of national strategy to reduce overweight and obesity during childhood

Phenotypic characterization of chromosome 22 rearrangement

Chromosomal rearrangement can lead to altered gene dosage, resulting in genomic disorder. Most of chromosomal rearrangements are associated with congenital malformations and mental retardation. Therefore genomic disorders have a large impact on human health. The present study focus on chromosome 22 as a model for chromosomal rearrangement, because of its susceptibility to genomic instability. We aim to describe and clarify the associated phenotypic changes of patients with chromosome 22 rearrangement using data of our patients and others of literature. We attempt to identify the role of various 22q regions in human development and phenotype. The present study included 8 patients. They were selected among patients referred to the Clinical Genetics Department, NRC. They were representing different numerical and structural chromosome 22 rearrangements. Thorough clinical, cytogenetic and FISH studies were provided. The phenotypic manifestations were analyzed and evaluated according to the specific rearrangement. The 22q13 deletion was represented by 2 patients, displaying ring 22 and simple deletion. We observed that overall developmental delay, severe impairment of language, microcephaly, convulsions and or EEG changes were the overlapping findings among the two patients. More severe phenotypic manifestation were exhibited by patient of simple deletion, which could be the consequence of large deletion. Patient of ring 22 exhibited multiple. caf‚ au lait spots, sensorineural hearing loss and brain cyst which are consistent findings in NF2 [MIM 114570]. Disruption of NF2 gene at 22q11.21-q13.1 was highly suggestive in our patients of 22q13 deletion. Patients of NF2 should be investigated for chromosome 22q simple or cryptic deletion. Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 was represented by a patient. She exhibited cat eye syndrome [CES] phenotype [MIM 115470]. It strengthens the suggestion that trisomy of cat eye critical region [CECR] [22q11.2] is sufficient to cause CES with variable clinical findings. Paracentric inversion [PAI] of chromosome 22 was represented by 4 patients, two of them were sibs. PAI was paternally inherited, 3 patients carried the identical inversion of the phenotypically normal fathers. Non identical inversion was disclosed in one of both sibs. He exhibited congenital heart disease, one of his breakpoints was involved in 22q11.2 region. Deletion of 22q11.2 region had not been detected by conventional FISH studies in our patient. It might be explained by a small deletion that had not been detected by routine FISH studies resulting from unbalanced molecular recombinant from unequal crossing over in the inverted sequence. Further molecular studies may facilitate the identification of genes involved in cardiac morphogenesis. Unexplained mental retardation/delayed motor and mental development, abnormal facies, convulsions/EEG changes and hearing defects could be attributed to missed chromosome 22 rearrangement, particularly PAI. Our ascertainment of 7 cases with different chromosome 22 rearrangement, we observed that abnormal ear development and or hearing deficiency was a constant and common clinical finding among our patients. In general, chromosome 22 may play an important role in ear and hearing development in human. In particular, genomic disorder of 22q11.2 region has a major role in cardiac morphogenesis and CES phenotypes

Clinical characterization of a de novo partial trisomy 22[pter-q12] in a female patient using FISH

Goldenhar sequence is a common birth defect of heterogeneous etiology. Most cases are sporadic. The phenotype is highly variable. Several chromosomal abnormalities have been reported in patients with Goldenhar sequence. In this study we report a 6.5 years old female patient presented clinically with manifestations of Goldenhar sequence. The karyotype revealed a de novo nonmosaic supernumerary marker [47, XX, +mar]. Application of FISH technique using both whole painting chromosome 22 probe and VCF/DGS specific locus probe for 22q11 [N 25 DiGeorge region probe with control, Oncor], showed partial trisomy 22 [22pter22q12]. Comparing our findings with the two previously rare reported cases in literature, the present study strengthens the concept of Goldenhar sequence and trisomy 22 association. Thus, raising the possibility of existence of undetectable gene or genes on 22pter-22q12 region, proposed to be responsible for manifestations of Goldenhar sequence. To our knowledge, this is the first Egyptian case to be reported as having Goldenhar sequence and partial trisomy 22. We recommend combined karyotyping and FISH technique for all cases of Goldenhar sequence to confirm and or clarify this implication for proper genetic counseling

Environmental factors in the etiology of congenital malformations in Egyptians

Among 500 cases with birth defects referred to the Human Genetics Department, National Research Center over a period of one year, 16 cases [3.2%], were selected for this study because they had positive history of exposure to teratogenic agents during early pregnancy. None of the studied cases had history of exposure to mutagenic or teratogenic agents prior to pregnancy.Environmental agents associated with the malformations were as follows: hormonal treatment in 9 cases, maternal diabetes in 3 cases, maternal rubella in 2 cases, maternal exposure to irradiation in one case, and lastly maternal intake of antimalarial drugs in one case. From this study we can emphasize the role played by environmental factors in the etiology of malformations in our country as it represents 3.2% of the referred cases with birth defects. We also confirm the recommendation to avoid the use of sex-steroid hormones and other teratogenic drugs during the period of organogenesis. Pregnant mothers should avoid exposure to irradiation and be immunized against viral infections particularly rubella before being pregnant. Diabetes should be adequately controlled by the use of insulin especially that no proof exists for its teratogenicity