Filter by keywords:



Filtering documents. Please wait...

1/17. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/digeorge syndrome I and digeorge syndrome II loci.

    Over 90% of patients with digeorge syndrome (DGS) or velocardiofacial syndrome (VCFS) have a microdeletion at 22q11.2. Given that these deletions are difficult to visualize at the light microscopic level, fluorescence in situ hybridization (FISH) has been instrumental in the diagnosis of this disorder. Deletions on the short arm of chromosome 10 are also associated with a DGS-like phenotype. Since deletions at 22q11.2 and at 10p13p14 result in similar findings, we have developed a dual-probe FISH assay for screening samples referred for DGS or VCFS in the clinical laboratory. This assay includes two test probes for the loci, DGSI at 22q11.2 and DGSII at 10p13p14, and centromeric probes for chromosomes 10 and 22. Of 412 patients tested, 54 were found to be deleted for the DGSI locus on chromosome 22 (13%), and a single patient was found deleted for the DGSII locus on chromosome 10 (0. 24%). The patient with the 10p deletion had facial features consistent with VCFS, plus sensorineural hearing loss, and renal anomalies. cytogenetic analysis showed a large deletion of 10p [46, XX,del(10)(p12.2p14)] and FISH using a 10p telomere region-specific probe confirmed the interstitial nature of the deletion. Analysis for the DGSI and the DGSII loci suggests that the deletion of the DGSII locus on chromosome 10 may be 50 times less frequent than the deletion of DGSI on chromosome 22. The incidence of deletions at 22q11.2 has been estimated to be 1 in 4000 newborns; therefore, the deletion at 10p13p14 may be estimated to occur in 1 in 200,000 live births.
- - - - - - - - - -
ranking = 1
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

2/17. Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.

    We describe a patient with type I diabetes, clinical findings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low c-peptide level. He had distinctive facial features, learning disabilities, short stature, and a history of glottic web and clubfoot. Although a normal karyotype was obtained, fluorescence in situ hybridization (FISH) revealed a submicroscopic deletion in the DiGeorge/velocardiofacial syndrome critical region at 22q11.2. His maternal half-brother also carried a chromosome 22q11.2 deletion. His mother has similar facial features and hypoparathyroidism. Autoimmune problems associated with chromosome 22q11.2 deletions have been reported. We suggest that the defects in immune regulation due to T-cell deficiency in chromosome 22q11.2 deletion syndrome may predispose to autoimmune disorders, including type I diabetes mellitus.
- - - - - - - - - -
ranking = 2
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

3/17. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

    Deletions of chromosome 22q11.2 are recognized as the main cause of a number of clinical phenotypes, including velocardiofacial syndrome (VCFS) and digeorge syndrome (DGS). Velocardiofacial syndrome is a relatively common developmental disorder that is characterized by craniofacial anomalies and conotruncal heart defects. Most 22q11.2 deletions occur sporadically, although the deletion may be transmitted in some cases. The present performed a molecular analysis in one family including a patient with clinical diagnosis of VCFS and his sister with a suggestive phenotype. Six polymorphic 22q11.2 markers (i.e. D22S420, D22S264, D22S941, D22S306, D22S425 and D22S257) were used for genotype analysis of the dna from the patients and unaffected relatives. The results revealed a 22q11.2 deletion in the patient and his sister from one of six markers (i.e. D22S941). genotype analysis demonstrated that the deletion in this sib was of maternal origin. The results suggest that the mother probably has gonadal mosaicism. The other relatives present normal dna profiles for all markers. These results have implications for genetic counseling because of a risk of transmission by germ cells carrying the deletion, even when parents present with a normal dna profile in their blood cells.
- - - - - - - - - -
ranking = 5
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

4/17. Pulmonary agenesis: expansion of the VCFS phenotype.

    In this report, we describe a child with the typical craniofacial manifestations of velocardiofacial syndrome (VCFS), a 22q11.2 deletion, and unilateral pulmonary agenesis. The 22q11.2 deletion syndromes are associated with malformations presumed to be caused by a disruption of cephalic neural crest cell migration during the fourth week of embryonic development. We suggest that the pulmonary agenesis seen in this case is related to a disruption of the dorsal aortic arch development that selectively interfered with lung bud growth. We suggest that pulmonary agenesis should be considered part of the spectrum of malformations seen in 22q11.2 deletion.
- - - - - - - - - -
ranking = 1
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

5/17. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.

    DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other findings) is seen in patients with deletions of 10p14. The clinical outcome with the common 22q11 deletion (90% of cases) is well known, but the outcome with the less frequent deletion types has not been well documented. Using cytogenetic and fluorescence in situ hybridization (FISH) analysis we studied a series of 295 patients with suspected DG/VCFS. We identified 58 subjects with a 22q11 deletion, and none with a 10p deletion. Fifty-two subjects had the common deletion, five had the proximal deletion, and one had an atypical proximal deletion due to a 1;22 translocation. We report clinical data of four subjects with the proximal 22q11 microdeletion, and of one patient with the atypical proximal deletion. The anomalies observed with the proximal 22q11 microdeletion fell within the DG/VCFS spectrum. Two females, 6 and 25 years old, had normal mental development. Normal development has been reported with the common 22q11 deletion, but only in a minority of cases. This study may indicate a better intellectual and/or behavioral outcome with the proximal vs. the common 22q11 deletion, rather than a chance finding.
- - - - - - - - - -
ranking = 5
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

6/17. Replacement of antipsychotic and antiepileptic medication by L-alpha-methyldopa in a woman with velocardiofacial syndrome.

    We report the case of a 23-year-old woman with velocardiofacial syndrome (VCFS) and a history of psychosis and seizures. She had been treated with conventional antipsychotic and antiepileptic drugs for 10 and 3 years, respectively. However, she continued to experience occasional hallucinations and paroxysmal jerking of the extremities. L-alpha-methyldopa 500 mg b.i.d. (later reduced to 250 mg t.i.d.) was added to her regimen. hallucinations and seizures stopped shortly. Over the course of approximately 1 year, the previous medications were discontinued without recurrence of psychotic and epileptic symptoms. Eventually, improved mental functions and behaviour enabled her transition from living in a licensed residential facility to sharing a private residence with a partner. VCFS is associated with haploinsufficiency of catecholamine-methyltransferase, leading to excessive extraneuronal catecholamine concentrations. Alpha-methyldopa inhibits catecholamine neurotransmission in a variety of ways. It is possible that the drug compensated for genetically disturbed catecholamine transmission thus achieving beneficial effects in this case.
- - - - - - - - - -
ranking = 5
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

7/17. Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologist's perspective.

    Velocardiofacial syndrome is classically characterized by clefting of the secondary palate, cardiac defects, learning disabilities, and facial dysmorphism. knowledge of this syndrome is of significant importance to otolaryngologists because a failure to recognize it prior to head and neck surgery can result in serious iatrogenic injury, including velopalatal insufficiency and damage to anomalous carotid arteries. To illustrate these issues, we describe the case of a 5-year-old boy with velocardiofacial syndrome. We also review the literature on velocardiofacial syndrome, which is not very extensive, perhaps because it is often difficult to recognize.
- - - - - - - - - -
ranking = 6
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

8/17. obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.

    The study of neurogenetic microdeletion syndromes provides an insight into the developmental psychopathology of psychiatric disorders. The aim of the study was to evaluate the prevalence of psychiatric disorders, especially obsessive-compulsive disorder (OCD), in patients with velocardiofacial syndrome (VCFS), a 22q11 microdeletion syndrome. Forty-three subjects with VCFS of mean age 18.3 /- 10.6 years were comprehensively assessed using semi-structured psychiatric interview and the Yale-Brown obsessive compulsive scale (Y-BOCS). Best estimate diagnoses were made on the basis of information gathered from subjects, parents, teachers, and social workers. Fourteen VCFS subjects (32.6%) met the DSM-IV criteria for OCD. OCD had an early age of onset and generally responded to fluoxetine treatment. It was not related to mental retardation. The most common obsessive-compulsive symptoms were contamination, aggression, somatic worries, hoarding, repetitive questions, and cleaning. Sixteen of the 43 patients (37.2%) had attention-deficit/hyperactivity disorder (ADHD), and 7 (16.2%) had psychotic disorder. The results of our study suggest that there is a strong association between VCFS and early-onset OCD. This finding may be significant in the understanding of the underlying genetic basis of OCD.
- - - - - - - - - -
ranking = 2.2570032289543
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

9/17. Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.

    OBJECTIVES/HYPOTHESIS: Several genetic diseases, such as velocardiofacial syndrome Del(22q11) and down syndrome, are associated with hearing impairment. STUDY DESIGN: case reports. methods: The authors reported two cases of hearing-impaired children, one with Del (22q11) and one with down syndrome, both with bilateral nonevolutive profound sensorineural deafness. Because of unusual features of their deafness and familial history, genetic evaluation was proposed. A homozygous 35delG mutation on the Connexin 26 gene was found in both children (DFNB1 phenotype). RESULTS: A review of the reported otological features of Del (22q11) and down syndrome showed that sensorineural deafness is rare and seldom profound. The authors found no evidence for a genetic link between Del(22q11) or down syndrome and 35delG mutation on the Connexin 26 gene. CONCLUSION: The case reports reveal a coincidental association between DFNB1 and a multiple congenital anomaly syndrome. The clinician must be aware of this type of association to manage genetic counseling, appropriate otological care, and suitable treatment.
- - - - - - - - - -
ranking = 1
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)

10/17. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome.

    fluorescence in situ hybridization (FISH) analysis can reveal undetected chromosomal rearrangements. We report a patient with cleft palate, hydronephrosis, and minor dysmorphic features, including low-set posteriorly rotated ears, down-slanting palpebral fissures, mandibular micrognathia, and brachymesophalangia. Routine chromosome analysis identified no abnormality of chromosome 22; FISH analysis with the TUPLE1 probe disclosed an interstitial duplication of 22q11.2. FISH analysis did not reveal the duplication on the initial testing of metaphase chromosomes, although, on review, the area was brighter on one chromosome in each metaphase spread. FISH analysis of interphase cells showed three TUPLE1-probe sites with two chromosome-specific identification probes in each cell. family history showed two older full siblings, a brother with behavior problems, oppositional defiant disorder, and learning problems and a sister with hydronephrosis and mild delays. The father and both siblings had similar facial features, and all three had the same interstitial duplication of the TUPLE1 probe. This family illustrates the novel complementary duplication syndrome of the velocardiofacial syndrome, which adds it to the expanding list of genomic deletion/duplication syndromes. The laboratory results further show the utility and need for careful analysis of interphase cells even in samples where good quality metaphases are available.
- - - - - - - - - -
ranking = 2.2570032289543
keywords = velocardiofacial syndrome, velocardiofacial
(Clic here for more details about this article)
| Next ->


Leave a message about 'Craniofacial Abnormalities'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.