1/447. Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/447. trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements.trisomy/tetrasomy 21 mosaicism was found in chorionic villi (semidirect preparation) obtained from a 40 year old pregnant woman. Since both cell lines were abnormal, the couple elected for pregnancy termination. placenta and fetal tissue samples were obtained for cytogenetic study. Long term cultured villi showed a non-mosaic trisomy 21 karyotype, while other tissues showed either a normal karyotype or normal/trisomy21 mosaicism. These discrepancies could be explained by a modified "bottle neck" embryogenic model with a trisomic zygote and a non-disjunction event taking place in one of the first divisions. Our case emphasises the need for confirmatory studies in other tissues when mosaicism is encountered in chorionic villi, even if all cell lines are abnormal.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
3/447. An extra idic(21)(q22.1) in a child with some features of Down's syndrome.A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t", and ulnar loops on both forefingers was found to have a 47,XY, psu idic(21)(q22.1).ish psu idic(21)(q22.1)(D13Z1/D21Z1 ,ETS2-) karyotype. The patient's phenotype, with only some Down's syndrome (DS) features, is probably related to his disomy for most or all of the critical region 21q22.2 q22.3 and agrees with the current notion that certain DS features may also result from 21q proximal duplications. The phenotypical comparison with 2 other patients with a similar extra idic(21) reveals some discrepancies, which may be related to the inherent clinical variability of similar imbalances: yet, a real difference between the tetrasomic segments cannot be excluded. Noticeably, all 3 patients with 21q proximal tetrasomy did not have cardiac defect and exhibited none or just one out of the five other DS phenotypic features attributed to a single gene or cluster on distal 21q22.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/447. Endometrial stromal sarcomas: immunohistochemical, electron microscopical and cytogenetic findings in two cases.Uterine sarcomas are approximately 3% of all malignant uterine corpus tumours. Of these, the tumours that originate solely in the stromal elements of the uterine wall are infrequent and have not been well characterized cytogenetically. We report two cases of endometrial stromal sarcomas (ESS), one low grade and one high grade, diagnosed by conventional histology, immunocytochemistry, electron microscopy and cytogenetics. Morphologically clear-cut differential structures were seen at optical, immunohistochemical, and electron microscopic levels, permitting a clear differential diagnosis. The low-grade ESS expressed hormonal receptors and vimentin, whereas the high-grade ESS showed no hormone receptors, high Ki-67 activity, and occasional cytokeratin-positive cells. Ultrastructurally, no malignant epithelial differentiation was seen in the tumour cells, but cilia were found in both cases. Cytogenetic study of the low-grade ESS showed pseudodiploid karyotype with chromosomes 6 and 20 rearranged. The high-grade ESS showed a complex karyotype with clonal numerical and structural anomalies. The chromosomes involved in the structural rearrangements were 1, 3, 6, 7, 13, 14, 15, 17, 19, and 21.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
5/447. Partial trisomy 13q22-->qter and monosomy 18q21-->qter as a result of familial translocation.We report on a patient with a partial trisomy of chromosome 13q22-->qter and partial monosomy of chromosome 18q21-->qter showing distinct malformations. The phenotype of this unbalanced karyotype has not been previously described. The proband had a craniofacial dysmorphism, neck pterygium, closed fists with overlapping fingers, cutaneous appendix of the left fist, equinovarus and postaxial hexadactyly of the feet, atrial septum defect, unilateral cryptorchidism and hypertrophic pyloric stenosis. Using fluorescence in situ hybridization (FISH) the father's karyotype 46,XY.ish t(13;18)(13pter-->13q22::18q21-->18qter; 18pter-->18q21::13q22-->13qter) and the child's 46,XY.ish der(18)(18pter-->18q21::13q22-->13qter)pat were established. The mother's karyotype was normal. A risk of unbalanced offspring in carriers of a balanced reciprocal translocation depends on the length and genetic constitution of the exchanged segments. risk figures should come only from empirical data. A phenotypically normal child with a balanced or normal karyotype could be born in the case of alternate segregation. amniocentesis should therefore be recommended in any further pregnancy.- - - - - - - - - - ranking = 4keywords = karyotype (Clic here for more details about this article) |
6/447. Small terminal deletion of 1p and duplication of 1q: cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years.A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G-banding and fluorescence in situ hybridization using multiple dna probes. The karyotype is now described as 46,XY, der(1)(qter-->p36.13::q42.3-->qter), representing a small deletion of 1p36.13-pter and a small duplication of 1q42.3-qter. Re-examination of this patient at age 16 years showed marked psychomotor delay, severely accentuated dorsal kyphosis and scoliosis, pectus excavatum, and other anomalies but no clinical signs of neuroblastoma. Comparison of the clinical findings in this case with those described in the patients having either a deletion of 1p36-pter or a duplication of 1q42-qter further illustrated the complexity of the genotype-phenotype relationship.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/447. Chromosomal abnormalities in a series of children with autistic disorder.In a series of 127 children diagnosed with autistic disorder the karyotypes of 8, on whom data were available, showed the following chromosomal abnormalities: breakage, a 47 XY pattern, trisomy 13, inversion-duplication of chromosome 15, 47 XY, der (15) (pter q15: p11 pter), 47 XXY and 46 XY, inv (2) (p11:q13pat, 3q ). Compared to those who were not karyotyped or had normal karyotypes, the children with abnormalities, although cognitively more delayed, were not rated as more severely autistic. Facial dysmorphias and minor physical anomalies tended to be more frequent in the chromosomally deviant subgroup. No differences in demographic characteristics or parental ages were evident. Results are consistent with the view of variability of expression of marker chromosome deviations and a greater severity of retardation and symptoms of autism in those affected. The relevance of the findings to a multimodal genetic etiology of autistic disorder is discussed.- - - - - - - - - - ranking = 3keywords = karyotype (Clic here for more details about this article) |
8/447. gonadal dysgenesis and Rokitansky syndrome. A case report.BACKGROUND: Primary amenorrhea and lack of sexual development occur in gonadal dysgenesis due to missing ovaries. Primary amenorrhea with sexual development occurs in Rokitansky syndrome due to absence of the uterus, with normal ovarian function. The association of these two conditions has been previously described as a rare event. CASE: A 19-year-old woman presented with primary amenorrhea and lack of secondary sexual characteristics. physical examination confirmed the absence of mammary development and of pubic and axillary hair. Pelvic ultrasound disclosed absence of the uterus and ovaries. Gonadotropin serum levels were in the menopausal range, and the karyotype showed two mosaic cell lines, 45,X/46,Xdic(X). Scanning of a large number of cells by interphase fluorescence in situ hybridization showed 12% of cells with a dicentric x chromosome. Laparoscopic study confirmed the absence of the uterus and ovaries, with normal fallopian tubes. CONCLUSION: This patient had two anomalies affecting reproductive performance, gonadal dysgenesis and congenital absence of the uterus, the first associated with an abnormal karyotype; the second seems to have occurred coincidentally. At this time there is no treatment for the reproductive dysfunction.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
9/447. Digynic triploid infant surviving for 46 days.We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite DNA polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/447. Fifty-three month persistence of ring chromosome in noninvasive bladder carcinoma.In a recurrent noninvasive papillary carcinoma of the bladder cytogenetic analysis by the direct technique was carried out on cystoscopic biopsies obtained at 53 month intervals. Persistent similar karyotypic abnormalities including aneuploidy, and ring and other marker chromosomes, the hallmarks of invasive cancer, were present in both specimens. In the 1973 specimen, DNA banding was identified in 35 per cent of the metaphases and in 56 per cent of the karyotypes. The continuing abnormal chromosomal silhouette of this tumor supports the stemline cell concept for malignancies, even when applied to such relatively benign neoplasms as this noninvasive carcinoma of the bladder.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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