Nutcracker Phenomenon as a Result of Celiomesenteric Trunk Aneurysm.

A common origin of the celiac trunk and superior mesenteric artery is exceedingly rare, and aneurysms of this common trunk are even rarer. According to our literature search, there are no reported cases of nutcracker syndrome or phenomenon involving this rare aneurysmal anomaly. Repair of such anomalies is standardly via open surgical approach with few reported cases of endovascular repair. We describe a patient with an aneurysm of the celiomesenteric trunk resulting in nutcracker phenomenon of the left renal vein. The celiomesenteric trunk aneurysm was repaired endovascularly, resulting in decreased surrounding inflammation and improvement of the left renal vein compression.

Complications of Cosmetic Surgery Tourism: Case Series and Cost Analysis.

BACKGROUND: Cosmetic surgery tourism is increasing exponentially. Patients seek cosmetic procedures within the United States and abroad, lured by lower cost procedures, shorter waiting lists, and affordable airfare and hotel accommodations. Unfortunately, operations are often performed by non-board-certified plastic surgeons, sometimes not even by plastic surgeons. Preoperative counseling, frequently limited to a video-chat with an office secretary, provides inadequate discussion regarding potential complications. Postoperative care is careless and rarely involves the operating surgeon. Complications are frequent, with management falling into the hands of plastic surgeons unfamiliar with the patient's care. Furthermore, the physician, rather than the patient or hospital, faces the largest cost burden. OBJECTIVES: The authors sought to explore their institution's experience treating complications of cosmetic tourism and investigate associated costs. METHODS: The retrospective review of 16 patients treated for complications related to cosmetic surgery tourism plus cost analysis revealed a substantial discrepancy between money saved by undergoing surgery abroad and massive costs accrued to treat surgical complications. RESULTS: The most common complication was infection, often requiring surgery or IV antibiotics on discharge. Mean cost per patient was $26,657.19, ranging from $392 (single outpatient visit) to $154,700.79 (prolonged admission and surgery). Overall, the hospital retained 63% of billed charges, while physicians retained only 9%. The greatest amount paid by any single patient was $2635.00 by a patient with private insurance. CONCLUSIONS: Cosmetic tourism has severe medical repercussions for patients and complications that burden hospitals, physicians, and the US medical system. Physicians treating the complications suffer the greatest financial loss.

Prothrombin G20210A mutation is associated with young-onset stroke: the genetics of early-onset stroke study and meta-analysis.

BACKGROUND AND PURPOSE: Although the prothrombin G20210A mutation has been implicated as a risk factor for venous thrombosis, its role in arterial ischemic stroke is unclear, particularly among young adults. To address this issue, we examined the association between prothrombin G20210A and ischemic stroke in a white case-control population and additionally performed a meta-analysis. METHODS: From the population-based Genetics of Early Onset Stroke (GEOS) study, we identified 397 individuals of European ancestry aged 15 to 49 years with first-ever ischemic stroke and 426 matched controls. Logistic regression was used to calculate odds ratios (ORs) in the entire population and for subgroups stratified by sex, age, oral contraceptive use, migraine, and smoking status. A meta-analysis of 17 case-control studies (n=2305 cases <55 years) was also performed with and without GEOS data. RESULTS: Within GEOS, the association of the prothrombin G20210A mutation with ischemic stroke did not achieve statistical significance (OR=2.5; 95% confidence interval [CI]=0.9-6.5; P=0.07). However, among adults aged 15 to 42 years (younger than median age), cases were significantly more likely than controls to have the mutation (OR=5.9; 95% CI=1.2-28.1; P=0.03), whereas adults aged 42 to 49 years were not (OR=1.4; 95% CI=0.4-5.1; P=0.94). In our meta-analysis, the mutation was associated with significantly increased stroke risk in adults ≤55 years (OR=1.4; 95% CI=1.1-1.9; P=0.02), with significance increasing with addition of the GEOS results (OR=1.5; 95% CI=1.1-2.0; P=0.005). CONCLUSIONS: The prothrombin G20210A mutation is associated with ischemic stroke in young adults and may have an even stronger association among those with earlier onset strokes. Our finding of a stronger association in the younger young adult population requires replication.

Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.

Maternal smoking during pregnancy is one proposed risk factor for gastroschisis, but reported associations have been modest, suggesting that differences in genetic susceptibility might play a role. We included 108 non-Hispanic white and 62 Hispanic families who had infants with gastroschisis, and 1,147 non-Hispanic white and 337 Hispanic families who had liveborn infants with no major structural birth defects (controls) in these analyses. DNA was extracted from buccal cells collected from infants and mothers, and information on periconceptional smoking history was obtained from maternal interviews, as part of the National Birth Defects Prevention Study. We analyzed five polymorphisms in three genes that code for enzymes involved in metabolism of some cigarette smoke constituents (CYP1A1, CYP1A2, and NAT2). Logistic regression models were used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) independently for maternal smoking and maternal and infant gene variants, and to assess joint associations of maternal smoking and maternal or infant gene variants with gastroschisis. In analyses adjusted for maternal age at delivery and stratified by maternal race-ethnicity, we identified three suggestive associations among 30 potential associations with sufficient numbers to calculate ORs: CYP1A1*2A for non-Hispanic white mothers who smoked periconceptionally (aOR = 0.38, 95% CI 0.15-0.98), and NAT2*6 for Hispanic non-smoking mothers (aOR = 2.17, 95% CI 1.12-4.19) and their infants (aOR = 2.11, 95% CI 1.00-4.48). This analysis does not support the occurrence of effect modification between periconceptional maternal smoking and most of the xenobiotic metabolizing enzyme gene variants assessed.

The portrayal of mental health in Irish mainstream news media.

OBJECTIVES: The portrayal of mental health in the mainstream news media is an important topic for discussion. Concerns about stigmatisation of those suffering from mental ill-health have been expressed for many years, leading to numerous anti-stigma campaigns. Previous Irish studies demonstrated an improvement in the tone and content of articles over time. This study aims to re-evaluate this topic, 19 years after it was last studied. METHODS: Four Irish papers including the tabloid, broadsheet, online and compact paper with the highest readership were analysed daily for a 12-week period. Using pre-determined definitions based on previous studies, all articles or headlines incorporating psychiatry-related material were examined for tone, content, utilisation of terminology, reference to self-harm, suicide and violence. RESULTS: In total, 735 articles (2.19/paper/day) were identified and analysed. The majority of articles were found to have a supportive or factual tone. A higher proportion of judgemental or sensationalist articles were found in the tabloid newspaper. An improvement was noted compared to previous Irish studies. A decrease in articles written by mental health professionals was noted. Only 5% of articles portrayed psychotic disorders, with many of these referring to violence. Compliance with relevant guidelines for reporting of suicide was good overall. CONCLUSION: There has continued to be an improvement in the tone and content of articles since previous Irish studies. The introduction of guidelines within this time may have played a significant role. Psychotic illness received limited coverage and was more likely to be portrayed in a stigmatising manner, guidelines relating to this could be of benefit. Engagement between psychiatrists and the media is important to improve the portrayal of psychotic illness and enhance awareness.

Men placed on waiting lists for psychiatric admission from Irish Prisons over five years: Clinical outcomes during a forensic "bed crisis".

BACKGROUND: Ireland has low provision rates of general and forensic beds compared with other western countries. In recent years there have been difficulties and delays in accessing forensic beds for prisoners with severe mental illness. AIMS: We aimed to determine clinical outcomes for male prisoners assessed as requiring psychiatric admission over an extended period, with time frames for admission and other outcomes. We aimed to determine whether admissions to forensic and non-forensic locations were risk-appropriate. METHODS: Participants included all male prisoners placed on psychiatric admission waiting lists in Ireland over five years 2015-2019. We described demographic, clinical and offending variables. We measured clinical outcomes including forensic admission, other admission and recovery with voluntary treatment in prison. We also measured times to clinical outcomes. Security requirements and clinical urgency were assessed using the DUNDRUM Toolkit scales 1 and 2. RESULTS: 541 male prisoners were placed on admission waiting lists and spent an aggregate of over 114 years on admission waiting lists during 2015-2019. Almost one quarter improved with voluntary treatment allowing removal from waiting lists, while over 75% did not. Admission was achieved for a majority of cases, albeit after lengthy delays for some. The most frequent outcome was diversion from remand to non-forensic inpatient settings. Non-forensic admissions arranged by the Prison Inreach and Court Liaison Service (PICLS) at Ireland's main remand prison at Cloverhill contributed 54% (179/332) of all admissions achieved and 76% (179/235) of all non-forensic admissions from prison waiting list. Median delay to admission was 59 days for forensic admissions and 69 days for admissions to non-forensic hospitals from sentenced settings, compared with 16.5 days for admissions to non-forensic hospitals from remand. CONCLUSIONS: Long delays for forensic admission during a five-year period of limited access to such beds were partly mitigated by transfers to non-forensic hospitals, mainly diversion of minor offenders from remand settings.

VACTERL syndrome with late presentation of annular pancreas with duodenal web: Case report.

VACTERL Syndrome affects multiple body systems and can include various anomalies of the Vertebral column, Anus and/or rectum, heart (Cardiac), Tracheo-Esophagus, kidneys (Renal), and Limbs. Patients with VACTERL syndrome are at increased risk of having a congenital duodenal obstruction that may be extrinsic in the form of an annular pancreas or intrinsic in the form of duodenal atresia, stenosis or web. Simultaneous presentation of both the annular pancreas and duodenal web is a rare clinical entity and typically presents in neonates. However, late presentation of annular pancreas combined with a duodenal web is exceedingly uncommon. We present a case of late diagnosis of annular pancreas with duodenal web resulting in an entrapped ingested foreign body.

Qualitative assessment of study materials and communication strategies used in studies that include DNA collection.

To understand motivations and barriers to participation in studies that include DNA collection, focus group discussions were held with mothers who had participated in a case-control study of birth defects. Recruited mothers had completed an interview and had received a mailed kit containing cytobrushes to collect buccal cells for DNA from herself, her infant, and her infant's father. Six moderator-led focus groups were attended by a total of 38 women residing in Atlanta, Georgia. Focus groups were segmented by DNA collection status (biologics participants or nonparticipants), infant case-control status, infant birthweight, and maternal race and ethnicity. This report assesses maternal attitudes toward study materials and communication strategies. Across groups, respondents expressed concern about how their contact information was obtained. Study materials were described as clear and professional by most women, although some respondents reported confusion about disclosure of individual genetic results. Respondents generally reported that monetary incentives were not a motivation to participate, but increased perceived study legitimacy. Biologics nonparticipants expressed concerns about kit component sterility; government involvement; and DNA sample use, storage, and disposal. Respondents suggested that investigators provide feedback on whether sample collection was performed correctly and provide materials targeted to fathers to help alleviate paternal skepticism. Participation in DNA collection might be improved by strengthening study materials and communication strategies.

Evaluation of mailed pediatric buccal cytobrushes for use in a case-control study of birth defects.

BACKGROUND: Buccal cell collection is a convenient DNA collection method; however, little attention has been given to the quality of DNA obtained from pediatric populations. The purpose of this study was to determine the effect of a modified cytobrush collection method on the yield and quality of infant buccal DNA collected as part of a population-based case-control study of birth defects. METHODS Cytobrushes were collected from infants, mothers, and fathers using a standard collection method in 1997 to 2003 and a modified protocol that allows air-drying of the cytobrushes after collection from 2003 to the present. Yield and quality of DNA from 1057 cytobrushes was assessed by quantitative PCR and short tandem repeat (STR) genotyping, respectively. RESULTS Air-dried cytobrushes from infants had higher median DNA yields (1300 ng) and STR completion rates (99.5%) than standard collection method cytobrushes (60 ng and 59.5%, respectively). A subset of DNA aliquots was genotyped for six single nucleotide polymorphisms (SNPs). Aliquots from both collection methods that passed the quality protocol (DNA concentration >1 ng/µl, and successful amplification of ≥1 STR) had high genotype completion rates (99-100%). The median DNA yield following whole genome amplification was more than twofold higher for air-dried than standard collection specimens (p < 0.001). CONCLUSION Yield and quality of buccal DNA collected from infants are improved by using a method that incorporates air-drying; however, DNA collected by both methods is suitable for genotyping if stringent quality control procedures are instituted. These findings may be helpful for future epidemiologic studies of birth defects and other adverse pediatric outcomes.

Establishment and Retrospective Analysis of a Pilot Peer Mentorship Program.

BACKGROUND: Studies suggest widespread advantages to peer mentoring programs; however, there is minimal data pertaining to medical students mentoring undergraduate students. OBJECTIVES: To determine the feasibility and perceived effectiveness of a medical student-undergraduate student peer mentorship program. METHODS: A needs assessment guided the development of Pre-Med Pair Up, a program connecting medical student mentors from the Medical College of Wisconsin and other US medical schools to undergraduates at Marquette University and the University of Wisconsin-Oshkosh to provide peer mentorship, premedical resources, and global health information. After 6 months, surveys were distributed to 43 premedical and 26 medical students to evaluate the program. Descriptive statistics and Pearson correlations (r) were used to assess the relational strength between program components and student confidence and knowledge. RESULTS: Eleven undergraduate and 26 medical students completed surveys. Most undergraduates expressed increased confidence in abilities as premedical students associated with program involvement (18.2% great, 27.3% moderate, 45.5% minimal, 9.1% no improvement). Increased confidence was strongly correlated with knowledge of volunteer opportunities (r = 0.887, P < 0.001) and feelings of preparedness for the medical school application process (r = 0.854, P = 0.001) and curriculum (r = 0.871, P < 0.001). CONCLUSION: While self-reported confidence improved and overall positive program outcomes were statistically significant, the number of participants was low and the number who completed mid-year surveys was even lower. Therefore, no conclusions about program effectiveness were made. Instead, a lessons-learned approach was used to discuss the pilot development, implementation, and suggestions for future program installment.

Scholarly output and the impact of self-citation among surgical fellowship program directors.

OBJECTIVE: The purpose of this study is to define the publication patterns and the impact of self-citation among program directors of surgical fellowships. METHODS: Program directors were identified through the respective fellowship accrediting council and association websites for eleven surgical subspecialties. Using the Scopus database, the number of publications, citations, self-citations, and h-indices were calculated. RESULTS: 781 program directors were identified. The mean number ±â€¯SD of publications, citations, and h-index for the cohort were 74.6 ±â€¯88.2, 2141 ±â€¯3486, and 18.8 ±â€¯14.5, respectively. The self-citation rate for the entire cohort was 3.17%. After excluding self-citations, the h-index remained unchanged for 72% of surgeons. After propensity score matching for h-index, colorectal surgeons (1.48%, p = 0.04) had significantly lower self-citation rates. CONCLUSION: Overall, self-citation is infrequent among program directors of surgical fellowships. There is a lower rate of self-citation among colorectal surgeons when compared to program directors in other specialties with similar baseline metrics.

Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

Population-based allele frequencies and genotype prevalence are important for measuring the contribution of genetic variation to human disease susceptibility, progression, and outcomes. Population-based prevalence estimates also provide the basis for epidemiologic studies of gene-disease associations, for estimating population attributable risk, and for informing health policy and clinical and public health practice. However, such prevalence estimates for genotypes important to public health remain undetermined for the major racial and ethnic groups in the US population. DNA was collected from 7,159 participants aged 12 years or older in Phase 2 (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III). Certain age and minority groups were oversampled in this weighted, population-based US survey. Estimates of allele frequency and genotype prevalence for 90 variants in 50 genes chosen for their potential public health significance were calculated by age, sex, and race/ethnicity among non-Hispanic whites, non-Hispanic blacks, and Mexican Americans. These nationally representative data on allele frequency and genotype prevalence provide a valuable resource for future epidemiologic studies in public health in the United States.

Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing technology.

BACKGROUND: Identification of CYP2A6 alleles associated with reduced enzyme activity is important in the study of inter-individual differences in drug metabolism. CYP2A6*12 is a hybrid allele that results from unequal crossover between CYP2A6 and CYP2A7 genes. The 5' regulatory region and exons 1-2 are derived from CYP2A7, and exons 3-9 are derived from CYP2A6. Conventional methods for detection of CYP2A6*12 consist of two-step PCR protocols that are laborious and unsuitable for high-throughput genotyping. We developed a rapid and accurate method to detect the CYP2A6*12 allele by Pyrosequencing technology. METHODS: A single set of PCR primers was designed to specifically amplify both the CYP2A6*1 wild-type allele and the CYP2A6*12 hybrid allele. An internal Pyrosequencing primer was used to generate allele-specific sequence information, which detected homozygous wild-type, heterozygous hybrid, and homozygous hybrid alleles. We first validated the assay on 104 DNA samples that were also genotyped by conventional two-step PCR and by cycle sequencing. CYP2A6*12 allele frequencies were then determined using the Pyrosequencing assay on 181 multi-ethnic DNA samples from subjects of African American, European Caucasian, Pacific Rim, and Hispanic descent. Finally, we streamlined the Pyrosequencing assay by integrating liquid handling robotics into the workflow. RESULTS: Pyrosequencing results demonstrated 100% concordance with conventional two-step PCR and cycle sequencing methods. Allele frequency data showed slightly higher prevalence of the CYP2A6*12 allele in European Caucasians and Hispanics. CONCLUSION: This Pyrosequencing assay proved to be a simple, rapid, and accurate alternative to conventional methods, which can be easily adapted to the needs of higher-throughput studies.

Maternal attitudes toward DNA collection for gene-environment studies: a qualitative research study.

To assess attitudes toward DNA collection in an epidemiological study, focus groups were assembled in September 2007 with mothers who had participated in a case-control study of birth defects. Each recruited mother previously had completed an interview and had received a mailed kit containing cytobrushes to collect buccal cells for DNA from herself, her infant, and her infant's father during the period July 2004 through July 2007. A total of 38 mothers attended six focus groups comprising: (1) non-Hispanic Black mothers of case infants who participated or (2) did not participate in DNA collection, (3) mothers of any race or ethnicity who had case infants of low birth weight who participated or (4) did not participate in DNA collection, and (5) non-Hispanic Black mothers of control infants who participated or (6) did not participate in DNA collection. Moderator-led discussions probed maternal attitudes toward providing specimens, factors that influenced decision making, and collection method preferences. Biologics participants reported that they provided DNA for altruistic reasons. Biologics nonparticipants voiced concerns about government involvement and how their DNA will be used. Information provided (or not provided) on DNA use, storage, and disposal influenced decision making. Biologics participants and nonparticipants reported that paternal skepticism was a barrier to participation. All mothers were asked to rank DNA collection methods in terms of preference (cytobrushes, saliva, mouthwash, newborn blood spots, and blood collection). Preferred methods were convenient and noninvasive. Better understanding attitudes toward DNA collection and preferred collection methods might allow more inclusive participation and benefit future studies.

Assignment to a hospital-based breastfeeding clinic and exclusive breastfeeding among immigrant Hispanic mothers: a randomized, controlled trial.

A randomized controlled trial is used to determine whether assigning mixed feeders to a breastfeeding clinic within 1 week postpartum will increase exclusive breastfeeding at 1 month among Hispanic immigrants. Subjects are eligible for the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC), and 85% are monolingual Hispanic. Mothers (n = 522) of infants at low risk for hyperbilirubinemia are approached at bedside 20 to 48 hours after delivery and randomly assigned to treatment or control groups. Intent-to-treat analysis of feeding behavior at 4 weeks postpartum indicates that the intervention group is more likely to be exclusively breastfeeding (16.4% vs 10% in the control group, P = .03; adjusted odds ratio 1.87; 95% confidence interval, 1.07-3.26); that the incidence of formula supplementation does not differ between groups; and that the intervention group is less likely to supplement with water and tea (P < .002).

Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

OBJECTIVE: In a study to identify exposures associated with 15 cases of childhood leukemia, we found levels of tungsten, arsenic, and dichlorodiphenyldichloroethylene in participants to be higher than mean values reported in the National Report on Human Exposure to Environmental Chemicals. Because case and comparison families had similar levels of these contaminants, we conducted genetic studies to identify gene polymorphisms that might have made case children more susceptible than comparison children to effects of the exposures. DESIGN: We compared case with comparison children to determine whether differences existed in the frequency of polymorphic genes, including genes that code for enzymes in the folate and purine pathways. We also included discovery of polymorphic forms of genes that code for enzymes that are inhibited by tungsten: xanthine dehydrogenase, sulfite oxidase (SUOXgene), and aldehyde oxidase. PARTICIPANTS: Eleven case children were age- and sex-matched with 42 community comparison children for genetic analyses. Twenty parents of case children also contributed to the analyses. RESULTS: One bilalleleic gene locus in SUOX was significantly associated with either case or comparison status, depending on which alleles the child carried (without adjusting for multiple comparisons). CONCLUSIONS: Although genetic studies did not provide evidence that a common agent or genetic susceptibility factor caused the leukemias, the association between a SUOXgene locus and disease status in the presence of high tungsten and arsenic levels warrants further investigation. RELEVANCE: Although analyses of community clusters of cancer have rarely identified causes, these findings have generated hypotheses to be tested in subsequent studies.

Thrombomodulin Ala455Val Polymorphism and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study.

BACKGROUND: The genes encoding proteins in the thrombomodulin-protein C pathway are promising candidate genes for stroke susceptibility because of their importance in thrombosis regulation and inflammatory response. Several published studies have shown that the Ala455Val thrombomodulin polymorphism is associated with ischemic heart disease, but none has examined the association with stroke. Using data from the Stroke Prevention in Young Women Study, we sought to determine the association between the Ala455Val thrombomodulin polymorphism and the occurrence of ischemic stroke in young women. METHODS: All 59 hospitals in the greater Baltimore-Washington area participated in a population-based case-control study of stroke in young women. We compared 141 cases of first ischemic stroke (44% black) among women 15 to 44 years of age with 210 control subjects (35% black) who were identified by random digit dialing and frequency matched to the cases by age and geographical region of residence. Data on historical risk factors were collected by standardized interview. Genotyping of the thrombomodulin Ala455Val polymorphism was performed by pyrosequencing. RESULTS: The A allele (frequency = 0.85) was associated with stroke under the recessive model. After adjustment for age, race, cigarette smoking, hypertension, and diabetes, the AA genotype, compared with the AV and VV genotypes combined, was significantly associated with stroke (odds ratio 1.9, 95% CI 1.1-3.3). The AA genotype was more common among black than white control subjects (81% versus 68%) but there was no significant interaction between the risk genotype and race (adjusted odds ratio 2.7 for blacks and 1.6 for whites). A secondary analysis removing all probable (n = 16) and possible (n = 15) cardioembolic strokes demonstrated an increased association (odds ratio 2.2, 95% CI 1.2-4.2). CONCLUSIONS: Among women aged 15 to 44 years, the AA genotype is more prevalent among blacks than whites and is associated with increased risk of early onset ischemic stroke. Removing strokes potentially related to cardioembolic phenomena increased this association. Further studies are needed to determine whether this polymorphism is functionally related to thrombomodulin expression or whether the association is due to population stratification or linkage to a nearby functional polymorphism.

A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.

The 22q11.2 deletion syndrome is one of the most common deletion syndromes in newborns. Some affected newborns may be diagnosed shortly after birth because of the presence of heart defects, palatal defects, or severe immune deficiencies. However, diagnosis is often delayed in patients presenting with other associated conditions that would benefit from early recognition and treatment, such as speech delays, learning difficulties, and schizophrenia. Fluorescence in situ hybridization (FISH) is the gold standard for deletion detection, but it is costly and time consuming and requires a whole blood specimen. Our goal was to develop a suitable assay for population-based screening of easily collectible specimens, such as buccal swabs and dried blood spots (DBS). We designed a pyrosequencing assay and validated it using DNA from FISH-confirmed 22q11 deletion syndrome patients and normal controls. We tested DBS from nine patients and paired buccal cell and venous blood specimens from 20 patients. Results were 100% concordant with FISH assay results. DNA samples from normal controls (n = 180 cell lines, n = 15 DBS, and n = 88 buccal specimens) were negative for the deletion. Limiting dilution experiments demonstrated that accurate results could be obtained from as little as 1 ng of DNA. This method represents a reliable and low-cost alternative for detection of the common 22q11.2 microdeletions and can be adapted to high-throughput population screening.