A 5‐month‐old girl had a typical 12p trisomy syndrome due to a monocentric i(12p) present in a 46‐chromosome complement that also included the translocation of all 12q onto the 8p telomere; i.e., her complex karyotype could be written as 46.XX, – 8,–12,+ der(8),t(8;12)(p23.3;cen), + i(12p). The present concurrence of a whole‐arm q translocation and an i(p) for a single chromocome, along with six previous similar instances involving chromosomes 4, 5 and 9, suggests the following origin for such a special rearrangement: a centric fission in Gl initially yielding two telocentrics; at the next replication, the tel(q) translocates onto a nonhomologous telomere (centromere‐telomere fusion), whereas the tel(p) becomes an i(p). This mechanism can be either meiotic or postzygotic and surmises that the translocated long arm retains a partial centromere, which subsequently is inactivated and loses its staining properties.
Background and Objectives: Sentinel surveillance in the early stage of the COVID-19 pandemic in Mexico represented a significant cost reduction and was useful in estimating the population infected with SARS-CoV-2. However, it also implied that many patients were not screened and therefore had no accurate diagnosis. In this study, we carried out a population-based SARS-CoV-2 screening in Mexico to evaluate the COVID-19-related symptoms and their weighting in predicting SARS-CoV-2 infection. We also discuss this data in the context of the operational definition of suspected cases of COVID-19 established by the Mexican Health Authority’s consensus. Materials and Methods: One thousand two hundred seventy-nine subjects were included. They were screened for SARS-CoV-2 using RT-PCR. The weighting of COVID-19 symptoms in predicting SARS-CoV-2 infection was evaluated statistically. Results: Three hundred and twenty-five patients were positive for SARS-CoV-2 and 954 were negative. Fever, asthenia, dysgeusia, and oxygen saturation predicted SARS-CoV-2 infection (odds ratios ranged from 1.74 to 4.98; p < 0.05). The percentage of asymptomatic COVID-19 patients was 36% and only 38.15% met the Mexican operational definition. Cq-values for the gene N of SARS-CoV-2 were significantly higher in asymptomatic subjects than in the groups of COVID-19 patients with neurological, respiratory, and/or musculoskeletal manifestations (p < 0.05). Conclusions: Dysgeusia, fever, and asthenia increased the odds of a positive result for COVID-19 1.74–4.98-fold among the study population. Patients with neurological, respiratory, and/or musculoskeletal manifestations had higher viral loads at COVID-19 diagnosis than those observed in asymptomatic patients. A high percentage of the participants in the study (61.85%) did not meet the operational definition for a suspected case of COVID-19 established by the Mexican Health Authority’s consensus, representing a high percentage of the population that could have remained without a COVID-19 diagnosis, so becoming a potential source of virus spread.
A familial inv(4)(p16q21) ascertained through a woman who had a thanatophoric dwarf daughter and two abortions is presented. She and 23 other relatives were carriers, but no recombinants were found. The proportion of abortions and neonatal deaths in carriers' offspring was similar to that in non‐carriers. A random segregation of the inverted chromosome was observed. The analysis of the present and previous familial chromosome 4 pericentric inversions indicates that: a) the breakpoint in q, with a limit between q21 and q25 determines the occurrence of inherited unbalances, and b) most recombinant chromosomes have duplication of the larger distal segment.
The proband was born weighing 3030 g after a normal pregnancy to a 20 year old primigravida mother and an unrelated 30 year old father. The family history was negative. A cat-like cry was evident neonatally. Psychomotor development was delayed and at 14 months of age he was still unable to sit and had no speech. Physical examination at this age (fig 1) showed height 77 cm, head circumference 43 cm (below the 3rd centile), hypotonia, and a round facies with hypertelorism, epicanthic folds, and down turned corners of the mouth.Cytogenetic analysis on peripheral blood lymphocytes using GTG banding showed a rearranged chromosome 5 (fig 2) that seemingly resulted from two pericentric breaks, one located at the proximal edge of p15 and the other at q22, with inversion of the centric segment and deletion of the p15 band. The karyotype was interpreted as 46,XY,inv(5),del(qter--q22::p15--q22:). Parental chromosomes were normal. Since the clinical picture was fairly typical of the cri-duchat syndrome, this observation agrees with the current notion that the monosomy 5pi5, probably a narrow area around the 5pl5-2 sub-band, is responsible for the phenotype.' Clearly, application of modern molecular genetic techniques will help to define the critical segment at the DNA level.2The three known instances of pericentric inversion with deletion concern chromosomes 1, 4, and 5.5 The inversions and deletions of chromosomes 1 and 4 were three break rearrangements with interstitial deletions. In the only previous report of inv del(S) there were also two breakpoints (at p15 and q31 or 33) with terminal deletion of p15. This may suggest, as in the present case, the formation of a neotelomere. These two examples may add further evidence for the occurrence of true terminal deletions.
A woman and her four children showed congenital sparse eyebrows, short, thin, misplaced and very scanty upper eyelashes and absent lower eyelashes. Erosion of the corneal epithelium was a common complication. This report confirms the condition as an autosomal dominant disorder.
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