1/8. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing GTG/CBG bandings showed presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). To the best of our knowledge, this is the first case of isochromosomes 1p and 1q replacing the two normal chromosome 1s. Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/8. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.We describe an 11-year-old boy of Saudi origin with an interstitial deletion in the short arm of chromosome 4 (p15.32p16.3) as determined by G-banding and fluorescent in situ hybridization. His clinical manifestations were similar but not identical to previously reported cases of interstitial deletion in the same chromosomal region, and were not those associated with wolf-hirschhorn syndrome. The boy had normal facial characteristics, short stature, minor anomalies of hands and feet, amblyopia of the right eye, bilateral hearing loss, and hypotonia. On developmental testing, he had borderline intelligence, with a severe sensory integration and motor planning disorder, and severe deficits in the communication domain. In addition, he had severe oligodontia affecting his secondary dentition. This finding supports the presence of one or more genes involved in dentition in this chromosomal region.- - - - - - - - - - ranking = 0.5keywords = hybridization (Clic here for more details about this article) |
3/8. tetralogy of fallot associated with chromosome 22q11.2 deletion in adolescents and young adults.PURPOSE: To clarify the clinical profiles of adolescents and young adults with tetralogy and 22q11.2 deletion, which has recently been identified as a cause of tetralogy of fallot in about 15% of patients. methods: Thirty-four patients with 22q11.2 deletion and tetralogy of fallot, with or without pulmonary atresia, including 15 males and 19 females, with their age ranging from 16 to 35 years (mean = 25) were studied. Main outcome measurements include chromosome deletion identified by fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes, medical states assessed with new york heart association classification, social activity assessed with Warnes index, IQ assessed by Wechsler test. RESULTS: Eighteen of 20 patients with tetralogy and pulmonary stenosis had cardiac repair, and their cardiac conditions were good except one. Of 14 patients with tetralogy with pulmonary atresia, 7 had Rastelli type cardiac repair and were doing well, although 4 of them needed re-operation for conduit stenosis. No cardiac repair was done in the other 7 patients with tetralogy, pulmonary atresia and major collateral arteries because their peripheral pulmonary arteries were too small. In 28 of the 34 patients (82%), overall social activity was limited because of extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia. The IQ in 17 patients was 59 /- 13 (mean /- SD): range 41 to 79. In two patients, repeated IQ study showed a decrease. Four patients developed schizophrenia. CONCLUSION: Tetralogy with 22q11 deletion can be repaired surgically except in those patients with pulmonary atresia, major collateral arteries, and small peripheral pulmonary arteries. However, most of the adult patients show an inability to function in social life in contrast to most patients with tetralogy but without the deletion, who have a normal social life. Extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia were major handicaps limiting full social activities in postoperative adolescents and young adults with 22q11.2 deletion and tetralogy.- - - - - - - - - - ranking = 0.5keywords = hybridization (Clic here for more details about this article) |
4/8. A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.- - - - - - - - - - ranking = 2.5keywords = hybridization (Clic here for more details about this article) |
5/8. Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13.We report a young girl with microphthalmia, conductive deafness, aortic isthmus stenosis, laryngomalacia, and laryngeal stenosis carrying a de novo supernumerary neocentromeric derivative chromosome 13. For the precise identification and characterization of the eu- and heterochromatic content of the marker chromosome, straightforward molecular cytogenetic analyses were performed, such as chromosome microdissection, FISH with different probes (e.g. wcp, alphoid centromeric probes, BAC), centromere-specific multicolor FISH (cenM-FISH), and multicolor banding (MCB). The analyses demonstrated that the marker consisted of an inverted duplication (partial tetrasomy) of the distal portion of chromosome 13 that was separated from the endogenous chromosome 13 centromere. Using an all-centromere probe and multicolor cenM-FISH, no alpha-satellite dna hybridization signal was detectable on any portion of the derivative chromosome. The presence of a functional and active neocentromere on the derivative chromosome 13 was confirmed by positive immunofluorescence signals with CENP-C antibodies. BAC-FISH confirmed the cytogenetic localization of the neocentromere in band 13q31.3. Thus the patient had a mosaic conventional karyotype mos 47,XX, inv dup(13)(qter-->q21.3::q21.3-->q31.3-->neo-->q31.3-->qter)[6]/46,XX [49].- - - - - - - - - - ranking = 0.5keywords = hybridization (Clic here for more details about this article) |
6/8. Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.We report on a patient with neurosensory deafness, cataract and moderate mental retardation showing a constitutional mosaicism with the predominant cell line consisting of a 45,XY,-13,-15, t(13;15) translocation of the Robertsonian type. By means of fluorescence in situ hybridization (FISH) using a panel of acrocentric pericentromeric probes and various banding techniques, the breakpoints in the translocation were determined at 13q12.1 and 15p13 respectively. Five other cell lines were present, at low percentage, one of them showing a t(13;15) tandem translocation. Interstitial telomeric sequences could be detected at the translocation fusion sites in both the Robertsonian and tandem translocations. The mosaicism appears therefore to be a consequence of chromosomal instability involving the t(13;15) fusion region of the predominant cell line, and related to the presence of interstitial telomeric sequences. The present observation suggests that in the pericentromeric 13q12 region, a gene involved in neurosensory deafness may be located.- - - - - - - - - - ranking = 0.5keywords = hybridization (Clic here for more details about this article) |
7/8. epidermodysplasia verruciformis with neurological manifestations.BACKGROUND: epidermodysplasia verruciformis (EV) is a rare, inherited disorder in which there is widespread and persistent infection by multiple subtypes of human papilloma virus, tinea versicolor-like lesions and plaques, and frequently malignant manifestations. MATERIALS AND methods: We report two cases of EV-a sister and brother aged 14 and 18 years respectively. Both had classical skin lesions together with neurological manifestations and deafness. In addition the man had plantar hyperkeratosis. They were treated with etretinate. CONCLUSIONS: PCR and dna hybridization of skin lesions from the man contained HPV-20 and HPV-57. He was treated with long-term oral acitretin; the warty lesions became partly or wholly flattened and the plantar hyperkeratosis showed a remarkable improvement. The woman died 10 years later as a result of metastasizing breast cancer.- - - - - - - - - - ranking = 0.5keywords = hybridization (Clic here for more details about this article) |
8/8. Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia.OBJECTIVE: A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. CASE REPORT: The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of phosphorus were 6.8 mg/dl (normal range 8.5-10.5 mg/dl), 8.9 mg/dl (normal range 5.5-7.4 mg/dl) and 96.8% (normal range 85-95%) respectively. He had normal values for serum parathyroid hormone (PTH) and 25-hydroxyvitamin D. No abnormalities were found by renal imaging and a routine renal function study. He showed a brisk plasma cAMP increase in response to human PTH-(1-34) infusion. He had normal karyotype 46, XY, without a microdeletion in chromosome 22q11.2 by an in situ hybridization method. Five family members were affected with hypoparathyroidism with sensorineural deafness with autosomal dominant transmission. The study of calcium-sensing receptor and preproPTH gene showed a normal dna sequence. CONCLUSION: The combination of familial hypoparathyroidism with sensorineural deafness without renal dysplasia is novel and the cause may be distinct from previously reported familial hypoparathyroidism with sensorineural deafness and renal dysplasia.- - - - - - - - - - ranking = 0.5keywords = hybridization (Clic here for more details about this article) |