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Results for “Cri-du-Chat Syndrome”

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At least 19 recordsLinked to original sources
PubMed1978

Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin.

A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation chromosome. However, no silver precipitation after AgNO3-staining was observed on the translocation chromosome, thus indicating a loss or genetic inactivation of the NOR-region of the translocated No. 15. These cytogenetic results and their possible relationship to the cri-du-chat phenotype are discussed.

Centromere↗
PubMed1976

Defects in granulocyte function in various chromosome abnormalities (Down's-, Edwards'-, Cri-du-chat syndrome).

In five infants with autosomal aberrations and diminished resistance to infection (in spite of intact humoral and cellular immune mechanisms) several granulocyte functions (chemotaxis, phagocytosis, intracellular killing and metabolism of killing) were measured. A serum-dependent or a cell-dependent disturbance of phagocytosis of Candida albicans was found in two infants with cat-cry syndrome and one with trisomy 18. In one of these children there was an additional serum dependent defect of the killing of Candida albicans and of Staphylococcus aureus, serum levels of opsonins (IgG, IgM, CH50 and C3) being within normal range. An infant with trisomy 21 showed, in addition to a cellular defect of chemotaxis, a reduced cellular ability of the killing of Staphylococcus aureus and of Escherichia coli in autologous and AB-pool-serum. Phagocytosis of these bacteria remained normal.

Blood Bactericidal Activity↗
PubMed1978

Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).

By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.

Abnormalities, Multiple↗
PubMed1979

Chromosome abnormalities in South African mental retardates.

Standard and differential staining techniques were employed in this cytogenetic study of mentally retarded Whites at the Umgeni Waterfall Institution. All of the 512 patients were karyotyped and 57 were found to have chromosome abnormalities. Of these, 42 had trisomy-21; there were 3 subjects with 5p deletion (cri-du-chat) syndrome, 3 had supernumerary small marker chromosomes, and 2 had complex structural rearrangements. Gonosomal aneuploidies were less common than the autosomal defects and only 2 poly-X males and 1 poly-X female were identified. Long Y chromosomes were found in 11 males and 4 others had deleted Y chromosomes. One abnormal chromosome, a deletion of the terminal region of 11q, was missed in unbanded karyotypes. Banding is essential to the identification of structurally abnormal chromosomes.

Chromosome Aberrations↗
PubMed1979

Ocular findings in cytogenetic syndromes.

Several cytogenetic syndromes are reviewed, and the salient ocular and facial abnormalities that might lead to a diagnosis are pointed out. Examples are given of mongoloid slant to the palpebral fissures, not only in Down's syndrome, but also in monosomy 9p, where, in addition, the triangular skull is almost diagnostic. Antimongoloid slant is found in trisomy 9p, where the eyes also have enophthalmos of monosomy 9p. Hypertelorism is another common finding in these syndromes; in monosomy 5p it is almost always present, although it occurs in other conditions as well, including trisomy 12p. The ring 22 syndrome has a distinguishing finding called "doe's eyes" because of the shape of the palpebral fissures. Trisomy 13 has numerous ocular findings as well as skull and facial involvements.

Child↗
PubMed1978

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.

Chromosome Deletion↗
PubMed1975

[The chromosomal syndromes (author's transl)].

Considering the results of modern cytogenetics in the area of chromosomal abberation, we can adopt without restriction two demands formulated by G. Koch (1971). First, further systematic research on mentally subnormal children should be carried out to clarify whether forms of chromosomal-genetic abnormality based on previously unknown structural alterations in one or several chromosomes can be discovered among those labelled "mentally subnormal". Second, the chromosomal-genetic forms of mental subnormality should be differentiated psychologically in close cooperation with child and adolescent psychologists and psychiatrists.

Abortion, Habitual↗
PubMed1978

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Data for 331 cri du chat cases, including 34 Danish probands, are reviewed. The incidence nad 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. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations (mosaicism, rings, and de novo translocations) accounted for less than 10% of all cases. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band. Clinical, radiologic, and dermatoglyphic features are summarized and discussed, with special attention to the abnormal cry, which persists in many older probands, and to developmental abnormalities. No obvious correlation could be detected between clinical features and the localization of the deletion. No marker locus has yet been assigned to the short arm of chromosome 5. Treatment and prevention are briefly discussed.

Adolescent↗
PubMed1975

Longitudinal development of object permanence in mentally retarded children: an exploratory study.

Monthly testing on a series of Piaget object tasks was carried out on 1- to 6-year-old profoundly, severly, and moderately retarded children. Forty nine subjects were followed for 1 to 1.5 years or to criterion; 18 subjects were followed for shorter periods. Three general patterns occurred among the noncriterion subjects with approximately equeal frequency: (a) little or no change, (b) marked variability, and (c) relatively steady upward change from month to month. Criterion and upward subjects skipped certain substages about one-half of the time. Degree of retardation, CA, and diagnostic concomitants of these observations were discussed.

Abnormalities, Multiple↗