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Although 40 years have passed since the first case of DiGeorge's syndrome was described, and the knowledge about this disorder has steadily increased since that time, 22q11.2 deletion syndrome (DS) remains a challenging diagnosis because its clinical presentation varies widely. We describe an infant with 22q11.2 DS who presented with annular pancreas, anorectal malformation, Morgagni-type congenital diaphragmatic hernia, and ventricular septal defect. This constellation of anomalies has never been described in DiGeorge's syndrome. Here, we provide a case presentation and a thorough review of the literature.

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Reproductive interference is widespread, despite the theoretical expectation that it should be eliminated by reproductive character displacement (RCD). A possible explanation is that females of sympatric species are too similar phenotypically for males to distinguish between them, resulting in a type of evolutionary dilemma or catch-22 in which reproductive interference persists because male mate recognition (MR) cannot evolve until female phenotypes diverge further, and vice versa. Here we illustrate and test this hypothesis with data on rubyspot damselflies (Hetaerina spp.). First, reproductive isolation owing to male MR breaks down with increasing interspecific similarity in female phenotypes. Second, comparing allopatric and sympatric populations yielded no evidence for RCD, suggesting that parallel divergence in female coloration and male MR in allopatry determines the level of reproductive isolation on secondary contact. Whenever reproductive isolation depends on male MR and females of sympatric species are phenotypically similar, the evolutionary catch-22 hypothesis offers an explanation for the persistence of reproductive interference.

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The 6p terminal deletions are rare and usually early diagnosed because of their association with eye and cranio-facial anomalies, particularly as part of Axenfeld-Rieger syndrome in relation with the haploinsufficiency of FOXC1 gene. Deletions in the 22q11 region are frequent, highly correlated with DiGeorge syndrome also named CATCH22, and may be associated with many clinical features of various severities. We report a 31-year-old man with an unbalanced 45,XY,der(6)t(6;22)(p25;q11.2),-22 karyotype leading to monosomies in both 6p25 and 22q11 regions, confirmed by FISH and array-CGH. The length of the deletions was respectively 770 Kb for 6pter and 2.9 Mb for 22q11. This karyotype was discovered at adult age following problems of fertility. The chromosomal formula was unexpected, regarding the patient's medical history and clinical features. This case makes a great example of the difficulties to correlate genotype and phenotype, and furthermore demonstrates the complexity of genetic counselling even in a case with two different chromosomal unbalances.

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BACKGROUND: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. OUTCOME: At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn who presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias, and penile hypoplasia. CONCLUSION: We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound.

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Introduction: Recent advances in ultrasound technology have made possible an easy and accurate visualization of the fetal thymus in vast majority of cases. On ultrasound, thymus is visualized in the upper mediastinum, between sternum and great vessels. Despite several previous papers published, there is no consensus regarding a clear correlation between these measurements and thymus hypoplasia. Nowadays thymus evaluation is not mandatory in routine ultrasound examinations, however at referral centers its evaluation could help to identify patients with high risk for microdeletion 22 q11. Recently it has been proposed a new method to assess the thymus; the “thymus-torax ratio”, this has been proven to be altered in 95 percent of fetuses with congenital heart disease and microdeletion 22q11. This study describes the experience at our unit using this new tool as part of routine fetal examinations. Materials and methods: A descriptive study, 44 ultrasound examinations between 19 and 38 weeks of gestation, in which thymus-thoracic ratio was measured as part of the routine fetal examination at this perinatal referral center. Objective: Determinate the factibility of measurement of the thymus- thoracic ratio in routine fetal ultrasound examinations. Results: The thymus- thoracic ratio was measured successfully at our routine fetal ultrasound examinations, results were similar to those previously reported. The ratio was not affected by fetal or maternal pathology and gestational age. Discussion: The thymus thorax ratio appears to be constant through gestation despite of maternal and fetal pathologies; it seems to have advantages over other types of measurements described in previous publications. However, due to small number of cases we suggest a new analysis with a larger number of patients.

Avances recientes en ultrasonido han permitido una visualización fácil y certera del timo fetal en la gran mayoría de los fetos examinados. En el examen de ultrasonido, el timo se encuentra en el mediastino superior, entre el esternón y los grandes vasos. A pesar de numerosas publicaciones, actualmente no existe consenso respecto de las técnicas utilizadas para realizar estas mediciones y el diagnostico de hipoplasia de timo. La evaluación del timo fetal no forma parte del examen de ultrasonido de rutina. Sin embargo, en centros de referencia pudiera ser de utilidad para identificar los pacientes con alto riesgo de presentar microdelecion 22q11. Recientemente se ha propuesto una nueva forma de evaluar el timo a través de la relación timo- tórax, la cual ha probado estar alterada en el 95 por ciento de los fetos con cardiopatía congénita y microdelecion 22q11. Este estudio describe nuestra experiencia en la incorporación de esta nueva herramienta en el examen de rutina fetal. Materiales y métodos: Estudio descriptivo, 44 reportes de exámenes ultrasonográficos realizados entre las 19 y 38 semanas de gestación, en los cuales se realizó la medición de la relación timo- tórax como parte del examen fetal de rutina, en este centro de referencia perinatal. Objetivo: Describir la experiencia de la unidad en la medición de la relación timo- tórax en el examen ultrasonografico fetal de rutina. Resultados: La medición de la relación timo- tórax fue incorporada de manera exitosa como parte del protocolo estándar de mediciones realizado en la unidad, con resultados similares a los reportados previamente. La relación no fue afectada por patología fetal o materna ni edad gestacional. Discusión: la relación timo- tórax parece ser constante a través de la gestación a pesar de la presencia de patología materna o fetal, siendo una medida que aparentemente provee ventajas sobre las otras descritas previamente en la literatura. Sin embargo debido al tamaño de la muestra...

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The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our patient was not diagnosed until age 13, although he had a cleft palate and presented with nasal speech and learning disturbances. He had no clinical manifestations of hypocalcemia until age 13, when he developed generalized tonic-clonic convulsions several times in that year. Laboratory tests showed hypocalcemia, hyperphosphatemia, with normo-to-low parathyroid hormone levels in the serum. Chromosome analysis with FISH revealed a deletion on the proximal portion of the long arm of chromosome 22(22q11.2). The authors herein report a case of CATCH22 syndrome who showed hypocalcemic convulsions in late childhood with a review of the literature.

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It has been well known that 22q deletion syndrome (22qDS), encompasses several genetic syndromes associated with microdeletions at chromosome 22q11.2 became relatively generally identified in the 1990s through the availability of specialized chromosomal studies, and it includes such syndromes as velocardiofacial syndrome (VCFS), DiGeorge syndrome (DGS), Shprintzen syndrome, CATCH 22. The syndrome is characterized by distinctive dysmorphology, congenital heart disease, athymia, parathyroid disease, other congenital diseases, learning difficulties and various psychiatric illnesses. This syndrome is a common genetic condition often accompanied by mild cognitive impairment. Learning difficulties and anger outburst are also common in adolescence with this syndrome. In addition, a prevalence of major psychiatric disorders in adults' individuals are high, especially schizophrenia, schizoaffective disorder, bipolar disorder and other psychiatric illnesses, including simple or social phobia, depression, obsessive-compulsive disorder. We report a patient with facial dysmorphology, cleft lip and palate, ventricular septal defect, borderline IQ, poor impulse control and psychotic symptoms who was diagnosed schizophrenia and 22qDS by FISH analysis which finds 22q11.2 microdeletion.

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Congenital absence of the pulmonary valve associated with Tetralogy of Fallot(TOF) is a relatively rare cardiac malformation. In the majority of cases, this lesion is associated with ventricular septal defect, obstructive pulmonary valve annulus, and massive dilatation of the pulmonary arteries. This combination of lesions is often called tetralolgy of Fallot and absent pulmonary valve. Although survival beyond infancy is frequent, a number of infants with the severe form of this syndrome die early with signs of severe respiratory distress and intractable cardiac failure. Recently, absent pulmonary valve has been described in a feature of CATCH 22 syndrome with microdeletion of the long arm of chromosome 22(22q11.1). We have experienced a patient of pulmonary valve absence associated with TOF, who was presented with severe respiratory distress and heart failure after birth. She died in the neonatal period despite intensive care. She was confirmed to have microdeletion of 22q11.1 by fluorescence in situ hybridization. We report a case of pulmonary valve absence associated with TOF with microdeletion of chromosome 22q11.1 with related literature.

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PURPOSE: Microdeletion of chromosome 22q11.2 are associated with DiGeorge syndrome(DGS), velocardiofacial syndrome(VCFS) and conotruncal anornaly face syndrome(CTAFS). DGS was originally described as an irnmunodeficiency disorder secondary to impaired T cell production due to thymic aplasia or hypoplasia. But the frequency E: severity of immunodeficiency of other clinical syndromes associated with the chromosome 22qll deletion has not been investigated. This study was undertaken to investigate the frequency and severity of immunodeficiency, the relation- ship of the immunodeficiency to clinical phenotypes, and the change of immunologic status with age in CATCH 22 syndromes patients. METHODS: Sixteen patients with CATCH 22 syndrome with characteristic clinical phenotype and chromosome 22qll deletion were studied. Hurnoral and cellular irnmunities were examined by measuring serurn IgG, IgA, IgM level and by T cell subset through flow cytometry and lymphocyte proliferation test by common T cell mitogens respectively. RESULTS: 69Zo of patients with CATCH 22 syndrome were found to have evidence of immunocompromise. The severity of the immunodeficiency did not correlate with any particular phenotypic features nor was it restricted to patients who were categorized as having DiGeorge syndrome. The severity of immunodeficiency tended to be normalized with age. CONCLUSION: The presence of the immunocompromise is common and its severity cannot be predicted based on the clinical phenotype of CATCH 22 syndrome. Therefore, each child with CATCH 22 syndromes regardless of clinical phenotype should be extensively assessed for earlier detection of subclinical immunodeficiency.

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PURPOSE: Deletion of chromosome 22q11 is associated with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. This study was performed to determine the criteria of clinical phenotype as recognizable syndrome and to research the loss of heterozygosity in CATCH 22 patients and their family. METHODS: An evaluation of the clinical and genetic profiles of 30 persons of CATCH 22 syndrome or their family referred with a diagnosis of either congenital heart disease or cleft palate was undertaken. The deletions of 22q11 were analyzed using the fluorescences in situ hybridization(N25, Oncor) and short tandem-repeat polymorphic makers(STRP, D22S941). RESULTS: The dysmorphic features of CATCH 22 showed considerable overlap and intrafamilial difference was common. The familial cases of CATCH 22 were transmitted maternally as autosomal dominant. The target gene study using the STRP maker(D22S941) in these series showed good clinico-genetic correlation but some heterogeneity. CONCLUSION: Although 22q11 deletion was large in size and high variable in polymorphic markers, extensive evaluation clinically as well as genetically will be necessary for subgrouping of CATCH 22 syndrome due to good clinicogenetic correlation. Furthermore, we also suggest the development of new polymorphic markers to research the unknown characteristics of polymorphic markers in Korean patients with CATCH 22 syndrome.

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BACKGROUND: CATCH-22 syndrome is a common genetic disorder with features of cardiac defect, abnormal face, thymic hypoplasia, cleft palate, and hypocalcemia, along with microdeletion at chromosome 22. This study is to report twelve Korean patients with CATCH-22 syndrome diagnosed by the fluorescent in situ hybridization (FISH) method. METHOD: Clinical features were analyzed according to the FISH result and the Southern blot analysis using new probes DGCR680 and pDH-1 was performed to correlate with the clinical findings and FISH results. Twelve patients were studied by FISH method and eight of them were studied by Southern blot analysis. RESULTS: Seven patients had typical facial features for CATCH-22 syndrome, but five patients had equivocal face, although they were originally suspected to have the conotruncal face. The main cardiac lesion of eight patients were tetralogy of Fallot (TOF) and seven of them had pulmonary atresia. Two cases had other anomalies in the ventricular outflow tract, being common arterial trunk or pulmonary stenosis. Two cases had a patent arterial duct or atrial septal defect (ASD). All of twelve patients had positive result on FISH study. Among eight patients with positive FISH study, six cases were positive for Southern blot analysis. CONCLUSION: We conclude that CATCH-22 syndrome has variable facial, cardiac and genetic features, and the combined use of probes is recommended for a more accurate diagnosis.

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The common arterial trunk is a congenital cardiovascular malformation in which one arterial trunk gives origin to the aortic arch, pulmonary and coronary arteries. Other cardiovascular malformations are often associated, such as ventricular septal defect, aortic arch interruption, patent arterial duct and so on. During the early period of life, the persistence of the increased pulmonary arteriolar resistance results in cyanosis. As the pulmonary vascular resistance decreases, the cyanosis disappears but signs of congestive heart failure become the main problems. We report five cases of common arterial trunk that was confirmed by autopsy at Chungnam National University Hospital, Seoul National University Hospital, and Yonsei University Severance Hospital between 1983 and 1995. The ages of these patients at autopsy were 8-28 days and four of them were male. Pulmonary arteries arose as a pulmonary trunk in two cases but three cases showed two arteries arising separately from the posterior wall of the common trunk. The type of ventricular septal defect was juxtatruncal in every case. All five cases had three leaflet truncal valves but three cases showed dysplasia of the leaflets. Interruption of aortic arch was associated in two cases. The cause of death was renal failure in two cases, cardiac failure after corrective surgery in two cases, and pulmonary edema and failure in one case.