1/8. Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome.A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly between 2nd and 3rd toes.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/8. Cri du chat syndrome: changing phenotype in older patients.The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all patients appears to be 5p15.2. The clinical picture is well known in younger patients and includes the typical high-pitched cry, psychomotor retardation, microcephaly, growth rate failure, and craniofacial abnormalities including round face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia. With advancing age, the clinical picture becomes less striking. We present seven patients with 5p deletion syndrome, who were between age 16 and 47 years. Comparing their phenotype at several ages, a change of their phenotype was noted. Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded. The diagnosis was difficult to make in some of the patients who were first seen at an older age. In some of them, the craniofacial appearance resembled that seen in angelman syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression. The clinical diagnosis should be confirmed as soon as possible with cytogenetic investigation to provide specific support, prevention, and treatment of complications. Therefore, it is important to perform follow-up studies in young children to determine their outcome after infant-stimulation programs.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/8. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15.3 and the remaining clinical features to 5p15.2. We report findings in a subject with a de novo t(5;7)(p15.2;p12.2) and an inv(3)(p24q24), who was found to have a cryptic microdeletion in the critical region for CdCs detected using a 1-Mb genomic microarray. In addition to 5p deletion, the proband had a de novo single clone loss at the 3p breakpoint of inv(3)(p24q24) and a familial single clone deletion at 18q12. Deletions were confirmed using microsatellite analysis and fluorescence in situ hybridization. The 5p deletion encompasses approximately 3 Mb, mapping to the border between bands 5p15.2 and 5p15.31. The single clone deletion on chromosome 3 maps to 3p24.3-3p25, for which there is no known phenotype. The clinical features of our proband differ from the characteristic CdC phenotype, which may reflect the combined effect of the two de novo microdeletions and/or may further refine the critical region for CdCs. Typical features of CdCs that are present in the proband include moderate intellectual disability, speech, and motor delay as well as dysmorphic features (e.g. broad and high nasal root, hypertelorism, and coarse facies). Expected CdCs features that are not present are growth delay, microcephaly, round facies, micrognathia, epicanthal folds, and the signature high-pitched cry. Behavioral traits in this subject included autism spectrum disorder, attention-deficit hyperactivity disorder, and unmanageable behavior including aggression, tantrums, irritability, and self-destructive behavior. Several of these behaviors have been previously reported in patients with 5p deletion syndrome. Although most agree on the cat-cry critical region (5p15.3), there is discrepancy in the precise location and size of the region associated with the more severe manifestations of CdCs. The clinical description of this proband and the characterization of his 5p deletion may help to further refine the phenotype-genotype associations in CdCs and autism spectrum disorder.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/8. Cri du Chat syndrome: a case report.Cri du Chat Syndrome occurs as a result of a partial deletion in the short arm of chromosome 5. Among the consequent abnormalities are low birth weight, a striking catlike cry in infancy, mental retardation, epicanthal folds, hypertelorism and dental malocclusions. This paper presents a case report on the dental treatment of a 23-year-old patient who received multidisciplinary treatment, including special education and precocious stimulation for carriers of this syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/8. A 45,XX,-5,-14, t(5q;14q)mat cri du chat child.A two-year-old girl has the following features of the cri du chat syndrome: microcephaly, hypertelorism, downward slanting of the palpebral fissures, psychomotor retardation and a cat-like cry. She is only of five patients having the cat cry syndrome with 45 chromosomes. Her karyotype is 45,XX, -5, -14, t(5; 14)(5qter leads to 5p11: : 14q11 leads to 14qter) with the translocation inherited from her mother and maternal grandmother, each of whom is the carrier of a balanced translocation 46,XX,t(5;14)(p11q11). Normal plasma activity for hexosaminidase b suggests the locus for this enzyme is not located in the delected segment of 5 p.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/8. Ocular findings in a newborn with cri du chat syndrome.A deletion of the short arm of chromosome No. 5 has been termed the cri du chat (cat cry) syndrome. We report the first ophthalmologic examination of a newborn infant with this syndrome. Multiple ophthalmic abnormalities were found, including hypertelorism, telecanthus, epicanthal folds, antimongoloid palpebral fissures, exotropia, optic atrophy, and tortuosity of the retinal vasculature. It is of interest that these changes are congenital and present at birth, rather than developmental. Although such individuals are usually so severely mentally retarded that no ophthalmologic intervention is indicated, there are rare exceptions, and each case must be judged individually. Ten percent to 15% of these children inherit the chromosomal abnormality from phenotypically normal parents. chromosomes from each parent should therefore be evaluated for the purposes of genetic counseling.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/8. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.The cri-du-chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5 (5p). patients present with a cat-like cry at birth, which is usually considered diagnostic of this syndrome. Additional features of the syndrome include failure to thrive, microcephaly, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation. We report on four families in which patients with 5p deletions have only the characteristic cat-like cry, with normal to mildly delayed development. The precise locations of the deletions in each family were determined by FISH using lambda phage and cosmid clones. All of the deletion breakpoints map distal to a chromosomal region that is implicated with the facial features and severe mental and developmental delay in the cri-du-chat syndrome. dna clones mapping in the chromosomal region associated with the cat-like cry feature will be useful diagnostic tools. They will allow for the distinction between 5p deletions that will result in the severe delay observed in most cri-du-chat syndrome patients and those deletions that result in the isolated cat-like cry feature, which is associated with a better prognosis.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/8. Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome. Both individuals were found to have an identical double pericentric inversion [inv5(p15.1q31(inv5(p14q12)))]. Neither inversion breakpoint mapped near the chromosomal regions implicated in the cri-du-chat syndrome. The phenotype of the son suggests that the inversion process may have affected the expression of some of the cri-du-chat syndrome genes, suggestive of a genomic imprinting or penetrance effect.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |