1/5. 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype.A dysmorphic male child of 8 months age presented with microphthalmia, micrognathia, hypertelorism, wide anterior fontanelles, large forehead, short neck, prominent ears, macrotestis and delayed developmental milestones. The patient presented with generalised seizures hydrocephalaus and Coarctation of aorta (Pre subclavian). He also had mild hypocalcaemia with normal renal function. Cytogenetic study revealed 18p(-) picture due to translocation between 14 p & 18q. Since the spectrum of clinical expression is similar to that is seen in 18p(-) syndrome it is suggested that not only whole of 18p but part of chromosome no. 18 proximal to 18 q 11.2 may also be involved in this phenotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/5. Y aneuploidy: a further case of a male patient with a 48,XYYY karyotype and literature review.An adult male with three Y chromosomes is reported. The patient showed some clinical features similar to those of Klinefelter's syndrome. This case represents the 6th instance described in the literature of a 48,XYYY karyotype without recognizable mosaicism. The authors compare the clinical symptoms with those of the five previously reported cases.- - - - - - - - - - ranking = 1.25keywords = karyotype (Clic here for more details about this article) |
3/5. trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).Partial trisomies of the short arm of chromosome 5 are uncommon. The first description was made by Lejeune et al., in 1964. It has been suggested that the critical region for 5p trisomy syndrome lies between 5p10 and 5p13. We report on a Mexican girl who developed severe mental retardation and generalized tonic clonic seizures at age 1 year. On physical examination at age 5 years, she had macrodolichocephaly, upslanted palpebral fissures, bilateral inner epicanthic folds, low nasal root, and malformed ears with posterior rotation which are clinical characteristics of 5p trisomy syndrome. The cytogenetic study with G bands and FISH with painting for chromosome 5 and with the cri-du-chat 5p15 unique sequence probe showed a duplication and inversion of 5p [46,XX, dup(5)(p15.3 p13.3)] which overlaps with the critical region for 5p trisomy syndrome. Our patient shares clinical characteristics with the patients described in the literature with involvement of this critical region. Both parents have normal karyotypes indicating the rearrangement is de novo. Only one patient has been reported in the literature with the same cytogenetic rearrangement as our patient, but this patient had a different phenotype. Since they only performed conventional cytogenetics and we performed FISH to confirm the diagnosis, the differences in the phenotypes could be explained by the presence of other genes involved in the rearrangement. The combined use of conventional and molecular cytogenetics in this case allows a more precise diagnosis and furthers knowledge in phenotype/genotype correlation.- - - - - - - - - - ranking = 0.25keywords = karyotype (Clic here for more details about this article) |
4/5. Agenesis of the corpus callosum and epilepsy in two brothers. Neurophysiological and MRI features.We report on two brothers with partial agenesis of the corpus callosum and seizure disorder presumably related to ectopic grey matter. Development of both patients was characterized by psychomotor retardation and focal epileptic seizures. Genetic examination revealed normal karyotypes. One brother showed a remarkable focal miniature spike and wave periodicity constantly observed on sequential EEG records. magnetic resonance imaging revealed partial agenesis of the corpus callosum and ectopic grey matter. Prior computerized tomography failed to visualize ectopic grey matter and overestimated corpus callosum agenesis. The heterotopic grey matter, isolated from the surrounding inhibiting influences, is the most probable source of focal seizures and the partial connection of both hemispheres may explain secondary generalization of seizures.- - - - - - - - - - ranking = 0.25keywords = karyotype (Clic here for more details about this article) |
5/5. trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression.We report two brothers and two second cousins with 4p trisomy secondary to a familial translocation t(4;7) (p12;q36). A comparison of their physical features demonstrates the variability of clinical manifestations associated with this chromosome abnormality. While previous authors have emphasized the distinctiveness of the 4p trisomy syndrome, the variability seen in the affected relatives in this family suggests that trisomy 4p is one of the less distinctive chromosomal syndromes. Further comparison of our patients with the previously reported cases of 4p trisomy and with two cases whose chromosomal breakpoints were similar confirms this variability. Studies of phenotype/karyotype correlations in affected relatives provides the best opportunity to determine the phenotypic consequences of a specific (that is, identical) translocation. Studies of unrelated persons are complicated by the effects of different breakpoints and of possible partial deletions.- - - - - - - - - - ranking = 0.25keywords = karyotype (Clic here for more details about this article) |