The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-).
TL;DR: This study of patients aged 12 to 55 years clarifies the course of development of the 5p- syndrome and finds the catlike cry disappears and new features appear including strabismus, thin face, dental malocclusion, short metacarpals or metatarsals, scoliosis, small wings of the ilia, pes planus, and prematurely gray hair.
About: This article is published in The Journal of Pediatrics.The article was published on 1970-11-01. It has received 85 citations till now. The article focuses on the topics: Cri du Chat Syndrome & Cri du chat.
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TL;DR: In this article, the authors reviewed data for 331 cri du chat cases, including 34 Danish probands, and found that the incidence and prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively.
Abstract: Data for 331 cri du chat cases, including 34 Danish probands, are reviewed. The incidence and the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. No striking association with prenatal events, parental ages, or birth order could be demonstrated. There was a significant excess of females.
270 citations
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TL;DR: A cytogenetic and phenotypic map of 5p to be defined and early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.
Abstract: The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability. The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F (SEMAF) and δ-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase (hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.
181 citations
Cites background from "The cri du chat syndrome in adolesc..."
...... age: the face becomes long and narrow (70.8%), the supra-orbital arch prominent (31.0%), the philtrum short (87.8%), the lower lip full (45.2%), dental malocclusion (open bite) (75.0%) (Fig. 1C,D), palpebral fissures tend to become horizontal (70.2%), divergent strabismus is frequent (44.7%), metacarpi (82.6%) and metatarsi (75.0%) are short resulting in small hands and feet, and prematurely grey hair may be observed (30.4%) [5,7-19, 24-28 ] ......
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...Developmental and behavioural profile The limited data available about the psychomotor development indicated a severe psychomotor and mental retardation in all patients [5, 25 ]....
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TL;DR: Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion, lending support to the hypothesis of a separate region in p15.3 for the speech delay.
Abstract: The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype correlation, 80 patients from the Italian CdCS Register were analysed. Molecular cytogenetic analysis showed that 62 patients (77.50%) had a 5p terminal deletion characterised by breakpoint intervals ranging from p13 (D5S763) to p15.2 (D5S18). Seven patients (8.75%) had a 5p interstitial deletion, four (5%) a de novo translocation, and three (3.75%) a familial translocation. Of the remaining four patients, three (3.75%) had de novo 5p anomalies involving two rearranged cell lines and one (1.25%) had a 5p deletion originating from a paternal inversion. The origin of the deleted chromosome 5 was paternal in 55 out of 61 patients (90.2%). Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion. The analysis of seven patients with interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731. Furthermore, this study lends support to the hypothesis of a separate region in p15.3 for the speech delay.
154 citations
Cites background from "The cri du chat syndrome in adolesc..."
...Hallmark clinical features of CdCS include a high pitched, monotonous cry, microcephaly, a round face, hypertelorism, epicanthic folds, micrognathia, abnormal dermatoglyphics, growth delay, and severe psychomotor and mental retardation. Characteristic phenotypic changes are seen in adolescent and adult patients....
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TL;DR: A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported, and the chromosomes of all patients were studied using both a non‐ banding and a G‐banding technique in order to estimate the relative efficiency of the two techniques.
Abstract: A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported. The chromosomes of all patients were studied using both a non-banding and a G-banding technique in order to estimate the relative efficiency of the two techniques in detecting structural rearrangements of the chromosomes.
A total of 57 patients was found to have a chromosome abnormality, including five with a balanced structural rearrangement. The contribution of chromosome aberrations to the etiology of mental retardation is discussed with special emphasis on the contribution of balanced structural rearrangements.
97 citations
Journal Article•
TL;DR: Using patients with atypical CDC features or asymptomatic deletions, several phenotypes associated with deletions of 5p are mapped, including speech delay, catlike cry, newborn facial dysmorphism, and adult facial dys Morphism.
Abstract: Cri du chat syndrome (CDC) is a segmental aneusomy associated with deletions of chromosome 5p15. In an effort to define regions that produce the phenotypes associated with CDC, we have analyzed deletions from 17 patients. The majority of these patients had atypical CDC features or were asymptomatic. Using these patients, we have mapped several phenotypes associated with deletions of 5p, including speech delay, catlike cry, newborn facial dysmorphism, and adult facial dysmorphism. This phenotypic map should provide a framework with which to begin identification of genes associated with various phenotypic features associated with deletions of distal 5p. We have also analyzed the parental origin of the de novo deletions, to determine if genomic imprinting could be occurring in this region. In addition, we have isolated cosmids that could be useful for both prenatal and postnatal assessments of del5(p) individuals.
96 citations
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279 citations
TL;DR: It is suggested that D/D translocation heterozygosis will be found in random human populations with a rate of at least 1 in 1000 and probably represents the most frequent type of chromosomal rearrangement.
Abstract: Preliminary results of chromosome studies on cultured umbilical-cord-blood leukocytes from a consecutive series of 2159 infants born during a year indicated that gross chromosome abnormalities were present in 0.48 per cent (cultures were successful in 1066 males and 1015 females, representing 96.3 per cent ascertainment). These included four infants with XYY, one with XXY and one with D/D translocation trisomy (all male), as well as two with regular trisomy 21, one with D/D balanced translocation and one with cri du chat (all female). These results suggest that D/D translocation heterozygosis will be found in random human populations with a rate of at least 1 in 1000 and probably represents the most frequent type of chromosomal rearrangement. The XYY condition appears in the order of 1 in 250 males. This may represent the most common form of aneuploidy in human beings.
173 citations
TL;DR: For the demonstration of the sex chromatin body in human tissues, fixation in 95% alcohol or modified Davidson's solution (95% alcohol, 30; formalin, 20; glacial acetic acid, 10; distilled water, 30) was best.
Abstract: For the demonstration of the sex chromatin body in human tissues, fixation in 95% alcohol or modified Davidson's solution (95% alcohol, 30; formalin, 20; glacial acetic acid, 10; distilled water, 30) was best. The staining procedure chosen for most materials is the following: Mounted preparations are coated with celloidin, hydrated, hydrolyzed 20 min in 52V HCl at 20-25°C, rinsed thoroughly in several changes of distilled water and transferred to a buffered thionin solution. This consists of 3 parts: (1) A saturated solution of thionin in 50% alcohol (filtered); (2) Michaelis buffer: sodium acetate (3 H2O), 9.714 gm; sodium barbiturate, 14.714 gm; CO2-free distilled water, 500 ml; and (3) 0.1N HCl. To make the staining solution, mix 28.0 ml of the buffer solution with 32.0 ml of 0.1N HCl and bring the total volume to 100.0 ml with the thionin solution. Its pH should be 5.7 × 0.2, and care should be exercised that no acid is carried over from the hydrolyzing solution, since this would progressively lower t...
136 citations