Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.

Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracutaneous abnormalities. Here, we report 2 new cases of phylloid hypomelanosis due to mosaicism involving chromosome 13. The first one is a mosaicism for a supernumerary marker belonging to chromosome 13 and the second one is the first report of phylloid hypomelanosis associated with a mosaic deletion of 13q. Because of the extremely low level of mosaicism in these 2 cases, SNP array analysis on skin fibroblasts was carried out, showing a 13q21.33-q34 duplication (71,024,411-115,103,529) and a 13q13.3-q34 (38,368,012-115,103,529) deletion. Both cases underline on the one hand the strict connection between phylloid hypomelanosis and anomalies of chromosome 13, and on the other hand the relevance of the SNP array analysis on skin fibroblasts in the detection of low-level mosaicism.

Current applications of contrast echocardiography.

Transthoracic echocardiography is a practical, widely available non-invasive imaging technique examining cardiac structure and function at rest and during stress. However, diagnostically useful images are not provided in a non-negligible proportion of patients, mainly because of obesity and lung disease. The use of echo-contrast agents (microbubbles consisting of high molecular weight gas encapsulated in a outer shell which have ultrasound characteristics distinctly different from those of the surrounding blood cells and heart tissue) solves these issues, providing cardiac chamber opacification and improving endocardial border definition, consequently allowing a more accurate quantification of left ventricular function. Besides improving the assessment of left ventricular function, echo-contrast agents may be used also to assess the myocardial perfusion at the capillary level, providing useful information about myocardial blood flow. Aim of the present paper is to provide an overview of the main clinical applications of contrast echocardiography, i.e. left ventricular opacification and myocardial contrast echocardiography.

Increased echodensity of transiently asynergic myocardium in humans: a novel echocardiographic sign of myocardial ischemia.

OBJECTIVES: This study was conducted to establish whether changes in myocardial texture can be observed in humans by transthoracic echocardiography during ischemic episodes of different severity and duration induced by various pathogenetic mechanisms. BACKGROUND: Increased echo-reflectivity of ischemic myocardium has been detected in experimental animals by epicardial echocardiography and by backscatter evaluation. METHODS: Transthoracic two-dimensional echocardiographic monitoring with a commercially available electronic sector scanner (2.25- or 3.5-MHz transducer) was performed during 35 episodes of transient myocardial ischemia induced by ergonovine in patients with vasospastic angina (n = 9), by dipyridamole in patients with angiographically assessed coronary artery disease (n = 11) and by balloon occlusion during coronary angioplasty (n = 15). Quantitative texture analysis of gray levels was performed off-line on digitized images during rest conditions, ischemia and the recovery phase in regions showing normal contraction at rest, obvious dyssynergy during ischemia and normal contraction in the recovery phase. In each condition, a control region with normal contraction throughout the study was also evaluated. RESULTS: Chest pain occurred in 23 of the 35 episodes; electrocardiographic (ECG) changes were present in 26 episodes, and consisted of ST segment elevation in 13, ST segment depression in 10 and pseudonormalization of a basally negative T wave in 3. The duration of ischemic episodes was 67 +/- 53 s by symptomatic criteria and 91 +/- 52 s by ECG criteria. The risk region showed an increased end-diastolic mean gray level amplitude in a.u. (arbitrary units) during ischemia (57 +/- 19) compared with rest (38 +/- 15) and recovery (38 +/- 18, p < 0.01). No significant changes were detected in the control region (rest 36 +/- 16 vs. ischemia 34 +/- 18 vs. recovery 31 +/- 13, p = NS). The percent increase in mean gray level was similar in the various types of stress employed (ergonovine, dipyridamole or angioplasty) and was not significantly correlated with either the duration of ST segment shift (r = 0.05, p = NS) or the severity of dyssynergy evaluated semiquantitatively by means of the wall motion score (r = 0.28, p = NS). In the 15 balloon occlusions performed in six patients during coronary angioplasty, the increased echoreflectivity of the risk zone was already evident during echocardiographic sampling performed after 10 +/- 4 s of occlusion (rest 35 +/- 9 vs. 53 +/- 10 a.u., p < 0.01) when no dyssynergy could be detected by quantitative wall motion analysis (percent area change by fixed center of mass reference system 31 +/- 10% at rest vs. 32 +/- 11% after 10 s of occlusion, p = NS). CONCLUSIONS: Transient short-lasting myocardial ischemia is associated with an abrupt increase in myocardial echodensity detectable by videodensitometric analysis applied to standard transthoracic echocardiographic images and is largely independent of the underlying pathogenetic mechanism (reduced blood supply or flow maldistribution with coronary stenosis). During controlled coronary occlusion, increased echodensity precedes the onset of regional dyssynergy.

Measurement of mitral valve area in mitral stenosis: four echocardiographic methods compared with direct measurement of anatomic orifices.

OBJECTIVES: This study sought to compare the mitral valve areas of patients with rheumatic mitral valve stenoses as determined by means of four echocardiographic and Doppler methods with those obtained by direct anatomic measurements. BACKGROUND: There has been no systemic comparison between Doppler-determined valve areas and the true anatomic orifice in a single cohort. METHODS: In 30 patients with mitral stenosis, the mitral valve areas determined by two-dimensional echocardiographic planimetry, pressure half-time, flow convergence region and flow area were compared with the values directly measured on the corresponding excised specimen by means of a custom-built sizer. RESULTS: The correlation coefficient was r = 0.95 (SE 0.06, p < 0.0001) for two-dimensional planimetry; r = 0.80 (SE 0.09, p < 0.0001) for pressure half-time; r = 0.87 (SE 0.09, p < 0.0001) for flow convergence region; and r = 0.54 (SD 0.1, p < 0.002) for flow area. Two-dimensional echocardiographic planimetry, pressure half-time, flow convergence region and flow area overestimated the actual anatomic orifice by > 0.3 cm2 in 2, 1, 6 and 0 patients, respectively, and underestimated it by > 0.3 cm2 in 0, 4, 1 and 8 patients, respectively. CONCLUSIONS: Mitral valve areas determined by two-dimensional planimetry, pressure half-time and proximal flow convergence region reliably correlated with size of the anatomic orifice. The flow area method provided a less reliable correlation.

Incorrect echocardiographic diagnosis in patients with mechanical prosthetic valve dysfunction: correlation with surgical findings.

PURPOSE: To identify the rate of occurrence and type of incorrect echocardiographic diagnoses in patients with mechanical valve prostheses. PATIENTS AND METHODS: We studied 170 consecutive patients (73 women and 97 men) with a total of 208 prostheses who underwent surgery for mitral (n = 136) or aortic (n = 72) valve dysfunction between January 1991 and December 1997. Preoperative echocardiographic data were compared with surgical findings. Any major discrepancy between the echocardiographic reports and surgery was judged to be unconfirmed when the preoperative echocardiographic diagnosis was not confirmed at surgery, but the prosthesis was found to be dysfunctioning; and was judged to be erroneous when the preoperative echocardiographic diagnosis was not confirmed, and surgical inspection failed to reveal any other prosthetic abnormality. RESULTS: There were 25 (12%) diagnostic errors. Of the 136 mitral prostheses, there were 9 unconfirmed diagnoses of paravalvular regurgitation (6 had a fibrous tissue overgrowth, 1 had a thrombus with fibrous tissue overgrowth, 1 had endocarditis vegetations, and 1 had a ball variance) and 5 erroneous diagnoses. Eleven diagnostic errors were made in the 72 aortic prostheses: there were 9 unconfirmed diagnoses (paravalvular regurgitation was diagnosed as transvalvular in 7, and transvalvular regurgitation as paravalvular in 2 cases), and 2 erroneous diagnoses. CONCLUSIONS: Although echocardiography has gained great credibility among clinicians, special care should be taken when assessing patients in whom prosthetic valve dysfunction is suspected.

Safety, feasibility, and diagnostic accuracy of accelerated high-dose dipyridamole stress echocardiography.

Protocols for dipyridamole stress testing have evolved in the last 16 years in the neverending quest of optimal diagnostic accuracy and user friendliness. Higher dipyridamole dose in a shorter infusion time provides higher sensitivity, but concern over safety is still controversial. An accelerated high-dose (0.84 mg/kg in 6 minutes without atropine) dipyridamole stress test was performed on 1,295 patients in 2 echocardiographic laborotories: Institute of Clinical Physiology of Pisa and Niguarda Hospital of Milan. During testing, there were no deaths and no patients had ventricular fibrillation. Major adverse reactions occurred in 3 cases (1 every 431 studies): 1 myocardial infarction, 1 brief cardiac asystole, and 1 transient ischemic attack. Overall feasibility was 97%. In 66 patients with normal function at rest who were evaluated off therapy, with coronary angiography performed independently of test results, the accelerated high-dose protocol showed a sensitivity of 85% (confidence interval [CI] 73% to 92%) and a specificity of 93% (CI 83% to 97%) for angiographically assessed coronary artery disease (quantitatively assessed diameter reduction > or = 50%). Diagnostic accuracy of the accelerated high dose was 89% (CI 79% to 95%). Thus, accelerated high-dose dipyridamole stress echocardiography was reasonably safe and well tolerated. This protocol is especially appealing for its excellent diagnostic accuracy coupled with the short imaging time and no need for drug cocktails.

Echocardiographic follow-up in patients with mild to moderate mitral stenosis: is a yearly examination justified?

The result of this study showed that echocardiographic and Doppler parameters in patients with mild to moderate mitral stenosis did not undergo any major changes over a relatively long observation period, reflecting the substantial stability of the valve disease process. Thus, unless such patients experience clinical deterioration, a yearly echocardiographic examination appears to be unjustified.

Preoperative assessment of cardiac risk in noncardiac major vascular surgery.

We evaluated whether a preoperative clinical algorithm allows an adequate stratification in cardiac risk and the predictive value of dipyridamole thallium-201 scintigraphy and rest echocardiography for postoperative adverse cardiac outcomes. Three hundred twenty patients undergoing 338 vascular surgery procedures were prospectively stratified into low, intermediate, and high risk. The low- and intermediate-risk patients underwent surgery without further diagnostic evaluation. In 7 high-risk patients the vascular procedure was canceled (1 died of myocardial infarction at 6-month follow-up), 9 underwent presurgical myocardial revascularization (1 died of myocardial infarction), and 49 underwent vascular surgery with perioperative intensive care treatment. Hospital mortality was 3.8%. Cardiac mortality and morbidity were 1.5% and 10.4%, respectively. We observed a significant difference in "hard" (death, myocardial infarction, pulmonary edema, major arrhythmias) and "soft" (myocardial ischemia, minor arrhythmias) events between groups, p <0.001. Previous pulmonary edema was a predictive variable of cardiac outcomes (multiple logistic regression analysis). Ninety-nine of 220 intermediate-risk patients randomly underwent dipyridamole thallium-201 scintigraphy: 37 had redistribution, 10 persistent, and 52 no defects; 7 of 13 soft and hard cardiac events occurred in patients without redistribution defects. Sensitivity, specificity, and positive and negative predictive values of redistribution defects for postoperative adverse outcomes were 38%, 63%, 14%, 87%, respectively. This algorithm may provide a safe and cost-effective approach (average cost saving per patient $1,500) to cardiac risk stratification. These results suggest that routine use of dipyridamole thallium-201 scintigraphy for screening of intermediate-risk patients may not be warranted.

Exercise thallium scintigraphy versus high-dose dipyridamole echocardiography testing for detection of asymptomatic restenosis in patients with positive exercise tests after coronary angioplasty.

The usefulness of high-dose (< or = 0.84 mg/kg over 10 minutes) dipyridamole echocardiography testing was compared with that of exercise thallium-201 scintigraphy in detecting restenosis (> 70% lumen reduction) in 50 asymptomatic patients with ST-segment depression during maximal exercise testing 3 months after successful coronary angioplasty. Dipyridamole echocardiography testing and exercise thallium scintigraphy showed a similar sensitivity (75 vs 83%; p = NS) and specificity (90 vs 84%; p = NS) for the detection of restenoses, which occurred in 12 patients. It is concluded that dipyridamole echocardiography testing is as accurate as exercise thallium testing for the noninvasive detection of severe restenosis in patients with exercise-induced asymptomatic ST-segment depression after successful angioplasty. Furthermore, the site, extent and severity of the thallium perfusion defects during exercise are correlated to those of the dyssynergy during dipyridamole echocardiography.

Comparison of usefulness of high-dose dipyridamole echocardiography and exercise electrocardiography for detection of asymptomatic restenosis after coronary angioplasty.

The present study compares the relative usefulness of the maximal treadmill exercise electrocardiography test with the high-dose dipyridamole echocardiography test (echocardiographic monitoring during dipyridamole infusion up to 0.84 mg/kg in 10 minutes) in detecting severe restenosis or coronary artery disease progression (greater than 70% stenosis) in asymptomatic patients 12 months after a primary successful coronary angioplasty. Criteria of positivity were: for the exercise electrocardiography test, an ST-segment shift greater than or equal to 0.1 mV from baseline, 0.08 second from the J point; for the dipyridamole echocardiography test, a transient dyssynergy of contraction, absent or of a lesser degree than that in the baseline examination. The exercise electrocardiography and dipyridamole echocardiography tests revealed a similar feasibility (91 vs 87%, difference not significant). Both tests could be performed in 75 patients. For detection of restenosis or disease progression, or both, the exercise electrocardiography test revealed a sensitivity similar to the dipyridamole echocardiography test (71 vs 71%, difference not significant), but a lower specificity (61 vs 90%). It is concluded that the high-dose dipyridamole echocardiography test is equally feasible but more accurate than the exercise electrocardiography test for noninvasive detection of severe asymptomatic restenosis or disease progression at 1 year after successful coronary angioplasty.

Value of transthoracic two-dimensional echocardiography in predicting viability in patients with healed Q-wave anterior wall myocardial infarction.

The role of transthoracic echocardiography as a predictor of recovery after revascularization has not yet been established. Two-dimensional echocardiography was performed in 15 patients with a healed anterior wall myocardial infarction and severe, isolated stenosis of the left anterior descending coronary artery before, and 3 to 6 months after angiographically confirmed successful revascularization. The asynergic segments were classified into 2 groups according to 2 different echocardiographic patterns: those showing a normal acoustic reflectance with normal end-diastolic thickness (pattern A segments) and those showing an increase in acoustic reflectance and reduced end-diastolic thickness (pattern B segments). We hypothesized that pattern A segments were more likely to recover (viable myocardium) and that pattern B segments were consistent with irreversibility. A total of 240 segments in the 15 patients were evaluated before and after revascularization. Sixty-seven segments were asynergic; of these, 52 were judged to have pattern A and 15 pattern B. Of the 52 pattern A segments, 27 were hypokinetic and 25 akinetic. All of the pattern B segments were akinetic (n = 9) or dyskinetic (n = 6). Pattern A was predictive of postoperative recovery in 39 of 52 segments (75%) (p < 0.0001); pattern B was predictive of irreversibly damaged tissue in 13 of 15 segments (87%) (p < 0.0001). Thus, in patients with healed anterior wall myocardial infarction, resting transthoracic echocardiography is a simple and reliable predictor of the behavior of asynergic segments after revascularization.

Additional diagnostic value of multiplane echocardiography over biplane imaging in assessment of mitral prosthetic valves.

OBJECTIVE: To evaluate how often multiplane transoesophageal echocardiography yields new or complementary data in mitral prostheses in comparison with the exclusive use of biplane imaging. PATIENTS: 73 consecutive patients with mitral prostheses who underwent multiplane transoesophageal echocardiograpy between January 1993 and December 1994. METHODS: Biplane images (transverse and longitudinal planes) and multiplane images (transverse, longitudinal, and intermediate planes) were recorded on two separate videotapes. The data provided by multiplane transoesophageal echocardiography were evaluated as (a) new data (abnormalities missed by biplane imaging); (b) complementary data (better delineating lesions already visualised by biplane imaging); or (c) redundant data (data already provided by biplane imaging). RESULTS: Multiplane transoesophageal echocardiography revealed new abnormalities in seven patients (9.5%) (thrombi in three and paraprosthetic leaks in the remaining four) and complementary data in nine (12.3%). In patients with paraprosthetic regurgitation, the possibility of continuously visualising the sewing ring by means of sequential angulations allowed the circumferential extension of the leak to be measured. In seven patients with paravalvar regurgitation who underwent surgery, the extension of the leak as measured by the multiplane approach closely corresponded with the surgical data. CONCLUSIONS: In comparison with the exclusive use of biplane imaging, the multiplane approach added new or complementary data in a significant proportion of patients with mitral prostheses. The ability to obtain the sequential adjacent planes allowed a more reliable appraisal of the extension of the leak and other abnormalities.

Color Doppler echocardiographic assessment of atrial septal defect size: correlation with surgical measurements.

In patients with atrial septal defect (ASD), color flow Doppler echocardiography provides visualization of the transseptal jet, the maximal dimension of which can be assumed to correspond to the maximal dimension of the true orifice. To test whether color flow Doppler echocardiography can provide an alternative method for measurement of ASD size, we studied 63 consecutive patients with echocardiographic evidence of ASD. In 48 patients the maximal dimension of the jet was measured in the parasternal, apical, or subcostal four-chamber view or in the parasternal short-axis view. In the remaining 15 patients transesophageal echocardiography was performed because of transthoracic views were inadequate. The transesophageal studies also measured, from two-dimensional images, the maximal transverse discontinuity in the atrial septum. All patients underwent surgical repair, during which the surgeon directly measured the maximal dimension of ASD. Linear regression equations were performed to compare transthoracic and transesophageal dimensions to those measured at operation. Correlation coefficients were as follows for transthoracic versus surgical measurements: r = 0.745, standard error = 4.35, p less than 0.001. Transesophageal measurements derived from both two-dimensional images and echocardiographic jet width showed similar excellent correlation with surgical measurements (n = 0.91, standard error = 4.33, p less than 0.001; and r = 0.919, standard error = 4.42, p less than 0.001, respectively). We conclude that ASD size derived from color flow Doppler echocardiography shows a good correlation with the anatomic maximal dimension observed at operation. Both transesophageal color flow Doppler echocardiography of jet width and direct surgical measurement of the defect provide an accurate estimation of ASD size.

Transthoracic high-frequency echocardiographic detection of atherosclerotic lesions in the descending portion of the left coronary artery.

To assess the ability of transthoracic high-frequency two-dimensional echocardiography to detect atherosclerotic lesions in the descending portion of the left coronary artery, 30 consecutive patients with suspected coronary artery disease underwent two-dimensional echocardiographic examination 24 to 96 hours before coronary angiography. The descending portion of the left coronary artery was arbitrarily divided into a mid segment (the portion of the coronary vessel embedded in the anterior interventricular sulcus) and an apical segment (the portion turning around the cardiac apex into the posterior interventricular sulcus). The mid segment was imaged in 24 and the apical segment in 25 of the 30 patients for a total of 49 out of 60 segments (82%). Comparison of the echocardiographically visualized segments with the corresponding angiographic segments indicated that a correct echocardiographic diagnosis of significant stenosis was made in 11 out of 12 segments. There were no false positive results. Thus the sensitivity and specificity of high-frequency transthoracic echocardiography in the detection of significant stenosis in the imaged segments were 92% and 100%, respectively. Compared with angiography, additional information concerning the status of the arterial wall, the presence of calcific plaques, and the cross-sectional extent of the obstructive lesions was obtained by echocardiography in eight patients.

Transesophageal echocardiography in the evaluation of mediastinal masses.

To assess the diagnostic impact of transesophageal echocardiography in the evaluation of mediastinal masses, 30 patients with mediastinal abnormalities detected by routine chest roentgenogram underwent transthoracic and transesophageal echocardiography. Subsequently, 29 of the patients underwent computed tomography and 16 underwent magnetic resonance imaging. The location and structure of the masses as well as their relationship to the surrounding structures were assessed. Anatomic confirmation and histopathologic diagnosis of the mediastinal masses by surgical resection and biopsy was available for all patients. Transesophageal echocardiography was more accurate than transthoracic echocardiography in detecting mediastinal masses (90% versus 73%), in identifying their structure (100% versus 90%), and in evaluating their relationship to contiguous organs (89% versus 81%). No complication was observed during the examinations. Computed tomography correctly diagnosed the location, structure, and relationships in all patients but one; magnetic resonance imaging correctly evaluated the mediastinal masses in all 16 patients. Our study suggests that transesophageal echocardiography is a valuable and safe complementary method of evaluating mediastinal masses. Moreover, this technique allows the obstruction of vessels and heart cavities, valve regurgitation, and right and left ventricular function to be easily assessed.

Effect of sample volume location on Doppler-derived transmitral inflow velocity values in 288 normal subjects 20 to 80 years old: an echocardiographic, two-dimensional color Doppler cooperative study.

The aims of the study were to evaluate in a population of 288 normal subjects 20 to 80 years old (1) the normal values of the indexes of the mitral flow velocity pattern measured either at the tips of the mitral leaflets or at the annulus; (2) whether there was a significant difference between the values obtained at the tips compared with those measured at the mitral annulus; (3) the correlation with aging between the indexes measured in the two different positions; and (4) whether certain physiological variables have different effects on diastolic function measured in the two different positions. The highest values were always measured at the tips of the mitral leaflets (p < 0.05); only atrial filling fraction, E acceleration time, and E deceleration velocity had higher values when measured at the level of the annulus (p < 0.05). The A-wave peak velocity had the same mean value when measured at both the tips and at the annulus. A significant difference in the correlation between parameters measured at the tips of the mitral leaflets with age and at the annulus (with age) was observed for the following parameters: (1) peak E velocity, E integral, total integral and E acceleration showed better correlation with age when measured at the annulus (p < 0.02); (2) peak A velocity and A integral showed better correlation with age when measured at the tips of the mitral leaflets (p < 0.001). Multivariate analysis showed that age was the variable that had the most influence on diastolic function parameters; heart rate had less influence on the diastolic function indexes.

[Clinical usefulenss of a saggital ultrasonography study of the left atrium: report of a case]. / Utilità clinica di una sezione ecocardiografica sagittale dell'auricola sinistra: descrizione di un caso.

Multiplane transesophageal echocardiography allows a more complete image of the complex anatomy of the left atrial appendage. In this study we describe a clinical case in which a "sagittal echocardiographic section" revealed a thrombus not imaged with the usual horizontal and longitudinal echocardiographic planes.

[Posterior echocardiography windows: usefulness in clinical practice]. / Le finestre ecocardiografiche posteriori: utilità nella pratica clinica.

Posterior cardiac structures cannot always be imaged by means of standard transthoracic echocardiography. Left pleural effusion leading to pulmonary atelectasis and/or to displacement of air-filled pulmonary tissue displacement, allows ultrasound transmission from a patient's back to his heart through a liquid interface. In this study we present the clinical usefulness of echocardiographic posterior windows for the diagnosis of constrictive pericarditis and aortic dissection in 2 patients in whom the standard transthoracic approach did not permit diagnostic imaging. We conclude that, in the case of left pleural effusion, the use of posterior windows should be encouraged.

Quantification of aortic flow by phase-contrast magnetic resonance in patients with bicuspid aortic valve.

AIMS: Bicuspid aortic valve (BAV) causes complex flow patterns in the ascending aorta (AAo), which may compromise the accuracy of flow measurement by phase-contrast magnetic resonance (PC-MR). Therefore, we aimed to assess and compare the accuracy of forward flow measurement in the AAo, where complex flow is more dominant in BAV patients, with flow quantification in the left ventricular outflow tract (LVOT) and the aortic valve orifice (AV), where complex flow is less important, in BAV patients and controls. METHODS AND RESULTS: Flow was measured by PC-MR in 22 BAV patients and 20 controls at the following positions: (i) LVOT, (ii) AV, and (iii) AAo, and compared with the left ventricular stroke volume (LVSV). The correlation between the LVSV and the forward flow in the LVOT, the AV, and the AAo was good in BAV patients (r = 0.97/0.96/0.93; P < 0.01) and controls (r = 0.96/0.93/0.93; P < 0.01). However, in relation with the LVSV, the forward flow in the AAo was mildly underestimated in controls and much more in BAV patients [median (inter-quartile range): 9% (4%/15%) vs. 22% (8%/30%); P < 0.01]. This was not the case in the LVOT and the AV. The severity of flow underestimation in the AAo was associated with flow eccentricity. CONCLUSION: Flow measurement in the AAo leads to an underestimation of the forward flow in BAV patients. Measurement in the LVOT or the AV, where complex flow is less prominent, is an alternative means for quantifying the systolic forward flow in BAV patients.

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42-1q44, the minimal chromosomal region involved has not yet defined. In this report, we describe a 7 years old male with mental retardation, cryptorchid testes, short stature and alopecia carrying only an interstitial de novo deletion of 911 Kb in the 1q43 region (239,597,095-240,508,817) encompassing three genes CHRM3, RPS7P5 and FMN2.