A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.
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ABSTRACT:
SUBMITTER: Cordes Selby S
PROVIDER: S-EPMC8136447 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundPrevious studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD).Case presentationWe describe a 17-year-old girl with autism, severe mental retardation, epilepsy, and partial 9p duplication syndrome features in whom GTG-banded chromosome analysis revealed a female karyotype with a marker chromosome in 69% of analyzed metaphases. Array CGH analysis showed that the marker chromosome originated from 9p24.3 to 9p13.1 with a gain of 38.9 Mb. This mosaic 9p duplication was detected only in the proband and not in the parents, her four unaffected siblings, or 258 ethnic controls. Apart from the marker chromosome, no other copy number variations (CNVs) were detected in the patient or her family. Detailed analysis of the duplicated region revealed: i) an area extending from 9p22.3 to 9p22.2 that was previously identified as a critical region for the 9p duplication syndrome; ii) a region extending from 9p22.1 to 9p13.1 that was previously reported to be duplicated in a normal individual; and iii) a potential ASD locus extending from 9p24.3 to 9p23. The ASD candidate locus contained 34 genes that may contribute to the autistic features in this patient.ConclusionWe identified a potential ASD locus (9p24.3 to 9p23) that may encompass gene(s) contributing to autism or ASD.
| S-EPMC2946294 | biostudies-literature
Project description:IntroductionSiblings share a lifelong bond in their relationship, and they may choose to provide support to their brother or sister with a neurodisability. Previous reviews summarised programmes that only focused on the behavioural, emotional and psychological outcomes of the siblings. There is a need to synthesise existing evidence and enhance our understanding about programmes for siblings to acquire knowledge, develop skills and become empowered that can help them to provide support to their brother or sister with a neurodisability. The objective of this review is to identify and map the characteristics and outcomes of programmes designed to prepare siblings in their future roles to support their brother or sister with a neurodisability.Methods and analysisThis review will be conducted using the Joanna Briggs Institute methodology for scoping reviews. An integrated knowledge translation approach will be used by partnering with the Sibling Youth Advisory Council comprised of siblings of individuals with a disability throughout all review phases. Databases to be searched include PsycINFO, Cumulative Index of Nursing and Allied Health Literature, Sociological Abstracts, Education Resources Information Center, EMBASE, Web of Science, MEDLINE (Ovid) and SPORTDiscus, from date of inception to November 2020. Studies of programmes designed for siblings of individuals with neurodisabilities, with no exclusion on the age of siblings or context, and published in English will be included. Extracted data will include details of programme structure and content, eligibility criteria and participants, context, study methods and outcomes. A summary of the results will be presented in a tabular form to provide an overview of the programmes with an accompanying narrative summary to address the research questions of this review.DisseminationFindings from this review will be shared using dissemination strategies in partnership with the Sibling Youth Advisory Council. We will share the findings with key stakeholders such as healthcare providers, researchers, and patient and family advocacy groups.
| S-EPMC8264900 | biostudies-literature
Project description:Abstract Objectives Nutrition interventions to improve infant and young child feeding (IYCF) and care in developing countries usually target mothers, while critical roles of other family members, particularly older siblings, are not well known. As part of the Engaging Fathers for Effective Child Nutrition and Development in Tanzania (EFFECTS) cluster-randomized trial (ClinicalTrials.gov: NCT03759821), we examined the roles of older children and adolescents in IYCF and care in rural Tanzania to develop and administer informed quantitative questionnaires on IYCF and care by older siblings. Methods Twelve mothers, 12 fathers, 4 grandmothers, and 4 older siblings (7–17 years of age) were purposively sampled for qualitative interviews conducted July-August 2018. Open-ended questions explored older siblings’ roles in IYCF and care, managing time for child care, and responsiveness to young children's hunger cues. Inductive and deductive approaches were used to identify themes from transcribed interviews. Findings supported development of two questionnaires on older children's roles in IYCF and care (14 questions each) that were administered to mothers and siblings in the EFFECTS baseline. Results Qualitative data indicate older siblings (male and female) are involved in food preparation (e.g., starchy staples), daily feeding, hygiene (e.g., washing baby after toileting) and care when the mother is unavailable due to other household activities. The EFFECTS study enrolled 960 households across 80 villages in Mara, Tanzania, and 53% of households identified at least one sibling who cares for an index child aged 0–18 months. Baseline data collection is ongoing and indicates prevalence and types of child care (e.g., feeding, playing, hygiene, responding to crying) provided by older siblings. Conclusions To our knowledge, this is the first mixed methods study developing instruments to investigate the role of older siblings in providing IYCF and care in a rural, developing country setting. As parents seek to meet household and livelihood needs, older siblings are often engaged in child feeding and care. Nutrition interventions should consider roles of all family members, including older children, in child feeding and care. Further research is needed to evaluate the effect of family-based interventions. Funding Sources Eleanor Crook Foundation and Conrad N. Hilton Foundation.
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Project description:Early periprosthetic fractures after total knee arthroplasty are rare but devastating complications which require revision surgery and lead to poor patient satisfaction. We present 2 siblings who underwent primary total knee arthroplasty on the same day and then both presented 2 weeks after surgery with atraumatic periprosthetic femur fractures. The first patient underwent revision for a cemented distal femoral replacement with stemmed tibial fixation. The second patient underwent an isolated femoral component revision with a stemmed femoral component and distal augment. Histological evaluation identified significant peri-implant osteoporosis. The variation in complexity associated with early periprosthetic femoral insufficiency fractures is highlighted by these 2 cases. Surgeons may consider using stemmed femoral components in similar patients if poor distal femoral bone stock is encountered intraoperatively.
| S-EPMC7856391 | biostudies-literature
Project description:While 9p deletion and duplication syndromes have been studied for several years, small sample sizes and minimal high-resolution data have limited a comprehensive delineation of genotypic and phenotypic characteristics. In this study, we examined genetic data from 719 individuals in the worldwide 9p Network Cohort: a cohort seven to nine times larger than any previous study of 9p. Most breakpoints occur in bands 9p22 and 9p24, accounting for 35% and 38% of all breakpoints, respectively. Bands 9p11 and 9p12 have the fewest breakpoints, with each accounting for 0.6% of all breakpoints. The most common phenotype in 9p deletion and duplication syndromes is developmental delay, and we identified eight known neurodevelopmental disorder genes in 9p22 and 9p24. Since it has been previously reported that some individuals have a secondary structural variant related to the 9p variant, we examined our cohort for these variants and found 97 events. The top secondary variant involved 9q in 14 individuals (1.9%), including ring chromosomes and inversions. We identified a gender bias with significant enrichment for females (p = 0.0006) that may arise from a sex reversal in some individuals with 9p deletions. Genes on 9p were characterized regarding function, constraint metrics, and protein-protein interactions, resulting in a prioritized set of genes for further study. Finally, we achieved precision genomics in one child with a complex 9p structural variation using modern genomic technologies, demonstrating that long-read sequencing will be integral for some cases. Our study is the largest ever on 9p-related syndromes and provides key insights into genetic factors involved in these syndromes.
| S-EPMC8756500 | biostudies-literature
Project description:BackgroundApproximately 4% of the African-American population possess a valine-to-isoleucine (V122I) substitution within the transthyretin protein that results in a tendency for a normally tetrameric protein to dissociate into misfolded, monomeric subunits. These misfolded proteins can then accumulate pathologically and cause an autosomal dominant amyloid cardiomyopathy. Homozygous patients are infrequently documented in case reports, and though there are larger studies among heterozygous patients, there is a lack of studies or reports comparing disease within a family.Case summaryIn this case series, we discuss a 61-year-old African-American male who succumbed to heart failure secondary to cardiac amyloidosis while awaiting orthotopic heart transplantation. We compare his case with that of his sister, a 65-year-old African-American woman with a history of recurrent supraventricular tachycardia requiring radiofrequency ablation, and intermittent chest pain with chronically elevated troponin despite no evidence of coronary artery disease. The sister in question was found to be homozygous for the transthyretin (TTR) V122I mutation with evidence of infiltrative process on cardiac magnetic resonance imaging, while clinical testing verified a heterozygous genotype in the brother. Here, we compare the clinical course and imaging data for the aforementioned brother-sister pair in the context of the amyloidogenic transthyretin V122I gene variant.DiscussionThrough this familial report, we aim to highlight the variations in expression both within this family and in comparison, to the population. We also hope to emphasize the importance of genetic testing of families at risk for this specific transthyretin variant within the African-American community especially as novel therapies begin to emerge.
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Project description:Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phenotype shares characteristics of Noonan syndrome, Giemsa trypsin banding technique shows there is an extra chromosomal segment on chromosome 14, and array analysis shows that it belongs to a duplication of 38 Mb of 9p13.1p24.3. Fluorescence in situ hybridization analysis detected three signals from 9p chromosome. The duplication is de novo, being another unique case of the few reported in the literature.
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Project description:We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions.
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Project description:Maize karyotype variability has been extensively investigated. The identification of maize somatic and pachytene chromosomes has improved with the development of fluorescence in situ hybridization (FISH) using tandemly repeated DNA sequences as probes. We identified the somatic chromosomes of sister inbred lines that were derived from a tropical flint maize population (Jac Duro [JD]), and hybrids between them, using FISH probes for the 180-bp knob repeat, centromeric satellite (CentC), centromeric satellite 4 (Cent4), subtelomeric clone 4-12-1, 5S ribosomal DNA and nucleolus organizing region DNA sequences. The observations were integrated with data based on C-banded mitotic metaphases and conventional analysis of pachytene chromosomes. Heterochromatic knobs visible at pachynema were coincident with C-bands and 180-bp FISH signals on somatic chromosomes, and most of them were large. Variation in the presence of some knobs was observed among lines. Small 180-bp knob signals were invariant on the short arms of chromosomes 1, 6, and 9. The subtelomeric 4-12-1 signal was also invariant and useful for identifying some chromosomes. The centromere location of chromosomes 2 and 4 differed from previous reports on standard maize lines. Somatic chromosomes of a JD line and the commonly used KYS line were compared by FISH in a hybrid of these lines. The pairing behavior of chromosomes 2 and 4 at pachytene stage in this hybrid was investigated using FISH with chromosome-specific probes. The homologues were fully synapsed, including the 5S rDNA and CentC sites on chromosome 2, and Cent4 and subtelomeric 4-12-1 sites on chromosome 4. This suggests that homologous chromosomes could pair through differential degrees of chromatin packaging in homologous arms differing in size. The results contribute to current knowledge of maize global diversity and also raise questions concerning the meiotic pairing of homologous chromosomes possibly differing in their amounts of repetitive DNA.
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