1/8. High risk of malignancy in mosaic variegated aneuploidy syndrome.Fourteen cases of mosaic variegated aneuploidy (MVA) syndrome have been reported in the last 10 years. The phenotype of this rare condition has been quite consistent: severe microcephaly, growth deficiency, mild physical anomalies, and mental retardation. We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 years, myelodysplasia progressed to an acute lymphoblastic leukemia, and the patient died soon after. Several syndromes with short stature and severe microcephaly, such as the Seckel and Nijmegen syndromes, comprise hematological findings and chromosome instability. However, chromosome instability was not confirmed in our patient. MVA with hematological findings has not been reported before, but 3 patients of 14 (21%) have developed a malignancy (rhabdomyosarcoma, acute lymphoblastic leukemia, and nephroblastoma). Therefore, we propose that MVA is a condition predisposing to neoplasia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/8. Characterization of a small supernumerary marker chromosome as r(8) at prenatal diagnosis by MFISH.OBJECTIVE: To identify the mosaic marker chromosome detected in amniotic fluid cells of a 26-year-old woman, with raised triple test values and an ultrasound scan, which showed a fetus with echogenic bowels. methods: Routine karyotyping with G- and C-banding was carried out for both, amniotic fluid at 18 weeks of gestation as well as fetal blood at 22( 6) weeks. Peripheral blood of both parents was karytoyped. MFISH and the all centromeric human probe were used on fetal lymphocytes to identify the marker chromosome. RESULTS: Both parents had a normal karyotype. amniotic fluid culture showed a de novo supernumerary marker chromosome (SMC) in 14 of the 30 colonies from four different cover slip cultures. The marker was confirmed in 50% of the fetal lymphocytes. G- and C-banding provided little information except that the marker had some heterochromatic material. The all centromeric human probe also showed the presence of a centromere along with a rim of euchromatic material. MFISH identified this ring marker to be belonging to chromosome 8. CONCLUSIONS: SMCs with chromosome 8 have been shown to be variable phenotypes. Presence of only heterochromatic material seems to have no discernable phenotypic effects, but, with the presence of euchromatic material, mental and physical developmental delay has been reported. The parents opted to go ahead with the pregnancy and an apparently normal female baby was born at 40 weeks with no complications.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/8. microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.The phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe microcephaly, growth deficiency, mental retardation, and mild physical anomalies. The MVA syndrome is associated with mosaicism for several different aneuploidies involving many different chromosomes with or without premature centromere division (PCD). To date 28 cases of MVA syndrome have been reported. We report the first case of MVA syndrome without microcephaly. The clinical features in our patient included craniofacial dysmorphic features, growth retardation, and developmental delay. cytogenetics analyses and FISH studies showed multiple aneuploidy with trisomy 18, 19, and 8, respectively in blood lymphocyte and fibroblasts without PCD. This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/8. Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.A 21-month-old male infant with 46,XY,r(21) constitution identified by G and R banding is reported. The main clinical features were mental and physical retardation, microcephaly, antimongoloid slant of eyelids, malformed and low set ears. The clinical and cytogenetic findings of previously reported cases of r(21) are reviewed. Clinical resemblance to the eleven cases described in the literature is striking. The assays for superoxide dismutase (SOD-1) activity in the red blood cells from patient and his parents gave normal results. This findings is compatible with the hypothesis that only the segment distal to the SOD-1 locus, i.e. 21q22.2 leads to qter, has been lost during ring formation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/8. The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.The physical and dermatoglyphic features obtained from published reports of 128 patients with the trisomy 9p syndrome and 27 patients with the partial 9p monosomy syndrome are tabulated. This information is also provided on two new individuals with each of these chromosomal disorders. The dermal ridge patterns and palmar creases of trisomy 9p which are most helpful from a diagnostic standpoint are zygodactylous or absent palmar digital triradii, brachymesophalangy, reduced total finger ridge count, complex thenar/ID I patterns, transverse palmar ridge alignment, simian creases, distal axial triradii, and great toe and hallucal arch patterns. The characteristic features in partial 9p monosomy include dolichomesophalangy with accessory finger flexion creases, digital whorl patterns and elevated total finger ridge count, distal axial triradii, simian creases, and palmar dermal ridge dissociation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/8. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.The most common of the heterogeneous group of the extra structurally abnormal chromosomes (ESACs) is the inv dup(15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/angelman syndrome (PWS/AS) region, are constantly associated with phenotypic abnormalities and mental retardation. We report on four additional patients with inv dup(15), whose behavioral pattern, and neurologic and physical findings further delineate the phenotype of this neurogenetic syndrome. We also provide FISH analyses on chromosomes of the observed ESACs and discuss the role of a number of genes located within the tetrasomic region.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/8. Cardiovascular malformations and complications in turner syndrome.BACKGROUND: turner syndrome (gonadal dysgenesis with sex chromosome abnormalities) is recognized to be a disorder in which cardiovascular malformations are common. The prevalence and natural history of these findings, the risk for aortic dissection, and the occurrence of cardiovascular disease have all been the subject of debate, as have been the American Academy of pediatrics recommendations for cardiac screening of patients with turner syndrome. OBJECTIVE: To evaluate a large population of patients both cross-sectionally and longitudinally to determine the prevalence of cardiovascular malformations, the risk for dissection of the aorta, to determine whether there are phenotype:karyotype correlations that can allow for specific recommendations, and to devise an appropriate screening protocol. DESIGN AND methods: Data have been collected for patients with turner syndrome. These individuals have been seen in an ongoing clinic established for the study of the natural history of turner syndrome. Data from physical examinations, evaluations by cardiologists, echocardiography results, medical and surgical complications, medical records, and causes of death were analyzed. A total of 244 of 462 individuals in this population with karyotype-proven turner syndrome could be evaluated because echocardiograms had been obtained. In addition, the medical literature was reviewed for occurrences of aortic dissection in patients with turner syndrome. RESULTS: A total of 136 (56%) of 244 of these patients had cardiovascular abnormalities, 96 (71%) were structural, 40 (29%) were functional, including hypertension (HBP), mitral valve prolapse and conduction defects. Coarctation of the aorta and bicuspid aortic valve, alone or in combination, comprised >50% of the cardiac malformations. bicuspid valve was often not detected by examination, but only by echocardiography. Aortic dissection occurred in three of the patients. In one, it was traumatic; in a second, it occurred at the site of coarctation repair. The third patient had long-standing HBP with malignant obesity. In the literature, there have been 42 case reports of aortic dissection in turner syndrome. In all except 5, predisposing risk factors of coarctation, bicuspid aortic valve, and/or HBP were present. Of these 5, sufficient information regarding predisposing risk factors was provided for only 2. No phenotype:karyotype correlations could be drawn with any certainty. CONCLUSIONS: When the diagnosis of turner syndrome is made, a screening echocardiogram should be obtained. Referral to a cardiologist first may be appropriate, but physical examination does not substitute for visualization. Individuals with and without evidence of structural cardiac malformations should be monitored for HBP on a lifelong basis. In the absence of structural cardiac malformations or HBP, the risk for aortic dissection appears small, and repeated echocardiography or magnetic resonance imaging to follow aortic root diameters does not appear to be warranted based on data currently available. Protocols for following patients with structural malformations need to be individualized, and wholesale recommendations have little merit. A longitudinal study using magnetic resonance imaging or cardiac echocardiography to establish normal parameters for aortic root diameters and to follow aortic root changes is needed.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
8/8. Ascertainment of 68,XX double aneuploidy by midtrimester biochemical screening: a case report.A fetus with 68,XX karyotype was ascertained by an elevated midtrimester MSHCG. By antenatal ultrasound, the only unusual finding was in relation to the placenta. Preterm delivery was mandated by the development of severe preeclampsia. Postmortem examination of the stillborn fetus demonstrated no abnormal physical findings other than bilateral syndactyly of fingers and toes.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |