1/28. trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/28. De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris.We describe a female child with a ring chromosome 3, found after investigation for short stature. Her karyotype was 46,XX,r(3)(p26-q29). Her phenotype mainly differs from that of the nine patients previously reported with ring chromosome 3, by the presence of hypoplastic right thumb and bilateral coloboma of the iris.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/28. Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal, and urogenital systems. Discovery of an ocular coloboma should alert the clinician to search for other abnormalities.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/28. Bilateral ocular malformations in a newborn with normal karyotype: histologic findings.microphthalmos with cyst is a rare condition characterized by a small globe and an inferior uveoretinal coloboma. There is also a defect in the posterior aspect of the eye through which a cyst lined by neuroectodermically derived tissue protrudes into the orbit. A case of isolated bilateral colobomatous and cystic microphthalmos is reported in an otherwise healthy child, showing no evidence of chromosomal abnormalities. Microscopic findings in the enucleated eye consisted of iris and retinal dysgenesis, ectopia lentis, persistent anterior tunica vasculosa lentis and pupillary membrane, intrachoroidal smooth muscle, and optic nerve hypoplasia. In the orbital cyst, a thick membrane reminiscent of the retinal inner limiting membrane lay between the fibroadipose and vascularised outer wall and the inner neuroectodermal lining.- - - - - - - - - - ranking = 4keywords = karyotype (Clic here for more details about this article) |
5/28. Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome.A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus. magnetic resonance imaging of the head showed multiple bilateral asymmetric high signal intensity foci in the subcortical and periventricular white matter. genetic counseling disclosed a 47,XXY karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/28. A new case of a severe clinical phenotype of the cat-eye syndrome.A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the digeorge syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/28. Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins.The '13q-' syndrome shows widely variable manifestations. Investigation of the involvement of different tissues has never been reported in patients with 13q- syndrome previously.We describe a patient with mosaicism for del(13q) and clinical features of 13q- syndrome. The mother of the patient was professionally exposed to aniline colorants and glue components during the whole pregnancy. The patient had dysmorphic features, skeletal anomalies and brain malformations with agenesis of the corpus callosum, vermian hypoplasia and IVth ventricular system abnormalities. eye examination revealed chorioretinal coloboma and irregular dispersion of retinal pigment in the right eye. The karyotype analyses and the molecular studies performed on peripheral lymphocytes, oral swab and cells of urinary tract were normal whereas a deletion of the long arm of chromosome 13 (13q13.2) was found in skin fibroblasts and in hair cells.We hypothesized that the 13q deletion arose during the third week after conception possibly due to a teratogenic effect and that tissue of mesodermal and ectodermal origin are involved.We suggest analysing a fibroblast karyotype when a diagnosis of 13q- syndrome is suspected on clinical ground. The role of teratogens in causing this type of mosaic chromosome abnormality also warrants further investigation.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
8/28. iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/28. Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.A girl is described with bilateral retinal colobomata, Fallot's tetralogy, unilateral choanal atresia, abnormalities of the external ears, bilateral sensorineural deafness, a unilateral facial nerve palsy, and a tracheo-oesophageal fistula. A clinical diagnosis of the CHARGE association was made. She had an apparently balanced whole arm translocation involving chromosomes 6 and 8. Parental karyotypes were normal.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/28. Heterotopic ciliary epithelial differentiation in a patient with trisomy 13.A premature infant was born with congenital anomalies suggestive of trisomy 13, confirmed by karyotype analysis. Pathologic examination of the eyes revealed typical features of trisomy 13, including microphthalmos, extensive colobomata, and retinal dysplasia. A heterotopic ciliary body had also developed in the posterior segment of the left eye in the region of the posterior coloboma. The development of a well-formed ciliary body in the posterior segment of the eye questions the hypothesis that physical contact between the lens primordium and neuroepithelium is required for ciliary body development.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
| | Next -> |