1/26. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.- - - - - - - - - - ranking = 1keywords = partial trisomy, trisomy (Clic here for more details about this article) |
2/26. prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.We report the prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23-->pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face.- - - - - - - - - - ranking = 1.0483236800968keywords = partial trisomy, trisomy (Clic here for more details about this article) |
3/26. Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter).A child born with partial trisomy of chromosome 1 (1q32-qter) survived and was seen for anterior segment dysgenesis and congenital glaucoma. Pure trisomy 1q is rarely seen in live-born infants and has not previously been described in association with congenital glaucoma. The genetic basis for glaucoma is complicated and multifactorial and probably determined by a number of genes on a variety of chromosomes. The current case provides some evidence that part of chromosome 1 may be involved with the etiology of a glaucomatous process.- - - - - - - - - - ranking = 0.88165701343009keywords = partial trisomy, trisomy (Clic here for more details about this article) |
4/26. Ocular manifestations of mosaic trisomy 22: a case report and review of the literature.Mosaic trisomy 22 is rare, but can be compatible with prolonged life. patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8 kg and normal developmental milestones. He presented with unilateral ocular manifestations of ptosis, double elevator palsy, high myopia, and choroidal coloboma involving the macula. Cytogenetic evaluation showed a low level of trisomy 22 in peripheral blood lymphocytes (1 in 100) and in cultured fibroblasts from a conjunctival biopsy of the affected eye (1 in 60). Our case demonstrates the value of chromosomal analysis of the tissues involved rather than just karyotyping of the blood lymphocytes to detect mosaicism in patients with localised and unilateral congenital malformations.- - - - - - - - - - ranking = 0.3382657606773keywords = trisomy (Clic here for more details about this article) |
5/26. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. methods: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. CONCLUSIONS: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.- - - - - - - - - - ranking = 0.83333333333333keywords = partial trisomy, trisomy (Clic here for more details about this article) |
6/26. Idiopathic macular hypoplasia: a report of four cases and refinement of the phenotype of so-called ateliotic macula.PURPOSE: To refine the phenotype of idiopathic macular hypoplasia, also referred to as ateliotic macula, by describing a series of cases with this diagnosis. methods: A review of the clinical characteristics of four patients as documented in medical records with regard to refractive error, visual acuity, anterior segment examination, retinal findings, and ancillary tests such as electroretinography (ERG). RESULTS: All patients had oval circumscribed or diffuse areas in the posterior pole where the retina appeared not to have developed normally; the fovea was involved in three patients with reduced visual acuity, and one patient had parafoveal lesions with preserved visual acuity. There were three males and one females. patients' age ranged from 4 to 16 years. Errors of refraction ranged from severe myopia to hypermetropia and mild astigmatism. The anterior segment was normal in all patients. Three patients had strabismus and two had nystagmus. ERG was normal in the one patient in whom it was performed. One patient was mosaic for trisomy of chromosome 9. CONCLUSIONS: The term idiopathic macular hypoplasia can be applied to a spectrum of abnormalities in which a localized area of the posterior pole has a primordial or underdeveloped appearance. Lesions involving the fovea result in poor acuity. Generalized retinal dysfunction is absent. At least one of the genes involved in macular development may be located on chromosome 9.- - - - - - - - - - ranking = 0.048323680096757keywords = trisomy (Clic here for more details about this article) |
7/26. The ocular pathology of trisomy 22: report of two cases and review.Two cases of full trisomy 22 with the associated gross and microscopic pathology are reported. These cases demonstrate the typical craniofacial and organ system anomalies previously reported in trisomy 22 but also exhibit uveal colobomas that, within the spectrum of chromosome 22 anomalies, are usually restricted to the so-called "cat eye" syndrome. The attendant microscopic ocular findings represent, the best of our knowledge, the first such report in the literature.- - - - - - - - - - ranking = 0.28994208058054keywords = trisomy (Clic here for more details about this article) |
8/26. Familial wolf-hirschhorn syndrome associated with Rieger anomaly of the eye.The authors report the case of a male infant who presented with growth retardation and multiple congenital anomalies including bilateral cleft lip and palate, large glabella and broad nasal bridge. eye examination revealed Rieger anomaly, nasolacrimal duct obstruction and mild microphthalmia bilaterally. In addition, shawl scrotum, nail hypoplasia and linear skin hypoplasia of the lower extremities were noted. Two G-banded chromosome studies were normal; prophase analysis showed 4p monosomy and 10q trisomy derived from a paternal balanced translocation. The clinical recognition of wolf-hirschhorn syndrome in this child, despite the two normal chromosome studies, allowed for the recognition of the cytogenetic aberration and identification of other family members who carry the balanced translocation.- - - - - - - - - - ranking = 0.048323680096757keywords = trisomy (Clic here for more details about this article) |
9/26. Further observations of ocular pathology in trisomy 9.The ocular pathology in a new patient with mosaic trisomy 9 comprised major anomalies and contrasted sharply with the findings in a previous case reported by us. The ocular changes in this case were, in essence, indistinguishable from those encountered in the most severe form of trisomy 13. Similarities to trisomy 18 and 21 were further evidence of the overlap of ocular findings in autosomal trisomies. There is increasing evidence that most, if not all, chromosomes have some role in regulating ocular embryogenesis.- - - - - - - - - - ranking = 0.3382657606773keywords = trisomy (Clic here for more details about this article) |
10/26. Ocular pathology in trisomy 18. A histopathological report of three cases.Ophthalmic histopathology is presented in three cases of trisomy 18. The children, who showed typical systemic anomalies, died in the first few days of life. In two cases the cornea was normal, while in one case hypercellularity of the stroma was found and Bowman's and Descemet's layers were absent. A minimal cataract was also present in two cases. Retinal folds were a common finding in the posterior region in all three cases. In one case, a partial coloboma of the optic disc was present in both eyes. In case 2, a pouch between the optic nerve and the dural sheath was considered to be a minimal developmental disturbance of the primitive epithelial papilla possibly representing an optic pit. The absence of pigment epithelium on the nasal disc border in case 3, also points to a deformity of the primitive papilla. The importance of the disc region in clinical and histopathological investigation is stressed.- - - - - - - - - - ranking = 0.24161840048379keywords = trisomy (Clic here for more details about this article) |
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