Cases reported "Cri-du-Chat Syndrome"

Filter by keywords:



Filtering documents. Please wait...

1/62. Cri du chat syndrome and translocation t(5p--;18p ).

    Two new cases of "cri du chat" syndrome are reported in sisters aged 2 years and one month, respectively. These cases allowed us to detect a translocation t(5p--;18p ) in the mother and to study the familial segregation of this structural chromosome anomaly. At the same time, results from the dermatoglyphic analysis of the propositi as well as those of the carriers of the translocation are also reported.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

2/62. De novo complete trisomy 5p: clinical report and FISH studies.

    We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome-painting probe, probes for the cri-du-chat region and the centromere, and additionally high-resolution multicolor banding using a chromosome 5-specific dna probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements.
- - - - - - - - - -
ranking = 5
keywords = chromosome
(Clic here for more details about this article)

3/62. Cri du chat and turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies.

    A newborn girl with features of Turner and Cri du chat syndromes was found to have a pseudodicentric 5;x chromosome. Her karyotype was 45,X, psu dic(5;X)(p15.2;p22.1). The net result was monosomy for 5p15.2-pter and Xp22.1-pter. fluorescence in situ hybridization (FISH) showed the Cri du chat region was deleted. Replication banding studies to assess the X-inactivation pattern found only the X portion of the pseudodicentric chromosome to be late replicating without any apparent spread of inactivation into chromosome 5 segment. There are only two cases reported with a dicentric X; autosome. In this paper, we compare the cytogenetics of the present case and those in the literature.
- - - - - - - - - -
ranking = 3
keywords = chromosome
(Clic here for more details about this article)

4/62. Variability in a family with an insertion involving 5p.

    cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation. We identified a family with an insertion involving chromosome areas 5p and 16q. Four relatives are balanced carriers and have a normal phenotype, 5 have inherited the insertion in an unbalanced form with 2 resulting in partial trisomy of 5p and 3 in partial monosomy of 5p. The 3 individuals show a variable phenotype with respect to mental delay and some of the findings of cri-du-chat syndrome. The extent of the 5p deletion in this family was determined using previously mapped markers. The deletion in this family was informative for further refining the phenotypic map for the cri-du-chat syndrome. This family demonstrates the importance of performing phenotype-genotype correlation studies based on the presence rather than the absence of abnormalities.
- - - - - - - - - -
ranking = 2
keywords = chromosome
(Clic here for more details about this article)

5/62. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.

    We report on the clinical, cytogenetic, and molecular cytogenetic findings in a 4-year-old girl who was evaluated for developmental delay and a catlike cry from birth. No other findings of cri-du-chat syndrome were present. karyotype analysis demonstrated a de novo deletion and inverted duplication of the 5p region. The abnormality was confirmed and further defined by detailed FISH analysis using cosmid and lambda phage clones previously mapped to distinct regions of 5p. The analyses documented deletion of 5p15.3-->pter and an inverted duplication of 5p14-->5p15.3. The deleted segment on 5p contains the region implicated in the isolated catlike cry feature of the cri-du-chat syndrome, confirming that the genes involved in the catlike cry map to the distal end of 5p. Except for the catlike cry and possibly the developmental delay that may be due to the deletion of 5p, the duplication of 5p14-->5p15.3 in this patient did not present with additional anomalies. This study further demonstrates the usefulness of the molecular cytogenetic approach for characterizing complex chromosome rearrangements. Such analyses of patients with an isolated catlike cry can avoid an incorrect diagnosis of the cri-du-chat syndrome, which is associated with a more severe prognosis.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

6/62. 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 = 1
keywords = chromosome
(Clic here for more details about this article)

7/62. De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation.

    A family is described in which a reciprocal translocation involving 5p and 21q appeared de novo in the chromosome complement of a woman who then transmitted it in both balanced and unbalanced form to her progeny. The proposita, a child with the cri du chat syndrome, had a deficiency for most of 5p, all of 21p, 21 centromere, and a small proximal segment of 21q. The reported cases of the cri du chat syndrome associated with translocations are reviewed and discussed in relation to this family.
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)

8/62. Translocation 4p-- syndrome: a general review.

    The casee presented here may be the first fully identified and verified cas of translocation 4p-- syndrome, a B4/G22 translocation, ie, 45,XX,-4,-22, t(4q 22q). Thirty-nine other cases of the 4p--syndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p-- (Wolf) syndrome and 5p-- (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation. The newer chromosome banding techniques have made specific identification possible.
- - - - - - - - - -
ranking = 2
keywords = chromosome
(Clic here for more details about this article)

9/62. interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier.

    interphase fluorescence in situ hybridization (FISH) analysis has become an accepted practice for rapid preliminary analysis of chromosome aneuploidy from direct amniocyte preparations. The use of dual-color interphase FISH analysis with chromosome-specific protelomere probes for the rapid exclusion of chromosomally unbalanced segregants in the pregnancy of a reciprocal translocation carrier is reported. amniocentesis was performed at 16 weeks gestation on the carrier of a t(5;14)(p14.2;p13), who was ascertained after the birth of a son with the der(5) chromosome. interphase FISH analysis with probes for 5pter, 5qter and 14qter showed two signals for each, consistent with alternate segregation of the maternal translocation. Subsequent metaphase analysis confirmed a 46,XY,t(5;14)(p14.2;p13)mat karyotype in the fetus. This case illustrates the utility of interphase FISH analysis with protelomere probes for rapid prenatal diagnosis in cases of parental reciprocal translocation.
- - - - - - - - - -
ranking = 7
keywords = chromosome
(Clic here for more details about this article)

10/62. Radiologic signs of the 4p- (Wolf) syndrome.

    The improved Giemsa-trypsin banding technique was used to differentiate the 4p- (Wolf) from the 5p- (cri du chat) syndrome. New radiographic findings of polydactyly, cervical ribs, and fusion defects of the elbows, ribs, and spine are presented in a girl with 4p- syndrome with 45 chromosomes and a B4/G22 translocation [45, XX, -4, -22, t(4p22q)].
- - - - - - - - - -
ranking = 1
keywords = chromosome
(Clic here for more details about this article)
| Next ->


Leave a message about 'Cri-du-Chat Syndrome'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.