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.

The cri-du-chat syndrome : Epidemiology, cytogenetics, and clinical features

The study of 151 reciprocal translocations associated with abnormal probands shows that the mode of imbalance at birth is determined by the nature of the involved chromosomes and by the position of the breakpoints For each of the three modes (adjacent-1, adjacent-2, and 3:1) there is a corresponding pachytene diagram, so that for each translocation variety it is possible to predict the most probable mode of imbalance The determining factor is the relative length of the different branches of the cross formed by the tetravalent However, some heterochromatic regions (9qh, short arms of acrocentric chromosomes) and possibly R-negative regions have a minor role The factors involved in these mechanisms seem to be the selection and the chiasma position; their respective roles are discussed

Reciprocal Translocations: A Way to Predict the Mode of Imbalanced Segregation by Pachytene-Diagram Drawing

An analysis of genetic risks for reciprocal translocations is given. Data from translocation families, ascertained through unbalanced offspring with trisomy 9p, 10p and 12p, were taken from the literature. The translocations were specified according to (1) the type of trisomy, (2) the degree of resulting chromosomal imbalance (partial short arm trisomies, complete short arm trisomies, complete short arm trisomies including long arm segments) and (3) the type of disjunction (2:2 or 3:1) and segregation (adjacent-1, adjacent-2; tertiary trisomy, interchange trisomy). The risks for unbalanced liveborn offspring were high for translocations leading to partial short arm trisomies through 2:2 disjunction and adjacent-1 segregation (25-29%). They were lower for translocations leading to complete short arm trisomies through the same disjunction/segregation mechanism (5-17%). Low risks were obtained for translocations, leading through 3:1 disjunction to unbalanced offspring (about 2%). For 2:2 disjunction and adjacent-2 segregation and for 3:1 disjunction the risk is significantly lower for male than for female carriers.--The frequency of balanced karyotypes compared with normal karyotypes deviated among the phenotypically normal offspring of parental carriers from the theoretical 1:1 ratio, both for translocations ascertained through trisomy 12p and trisomy 10p.--It was demonstrated that the genetic risk for reciprocal translocations depends exclusively on (1) the degree of possibly resulting genetic imbalance and (2) the probability of the disjunction/segregation mechanism leading to this type of imbalance. Both factors can be predicted from the position of breakpoints.--The precision of breakpoint localizations and its impact on the risk estimation are also considered.--Finally, general rules for genetic counselling of families with reciprocal translocations are indicated.

Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies

Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid liveborn (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn ancuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies in A B by frequency of chromosome involvement, meiotic segregation mode, and mean trisomic, monosomic and combined genomic imbalances. Qualitative and quantitative differences identified genomic regions and chromosomes possibly vital for in utero survivability. LB aneuploidies indicate non-random chromosome involvement, selection of least detrimental segregants and segments, and predominant transmission from maternal balanced carriers (especially in 3:1 tertiary segregation, 93.5%). For an individual with a balanced reciprocal translocation and untested reproductive capability, an approach is given for predicting whether a translocation aneuploid conceptus will be liveborn or aborted.

Balanced reciprocal translocations: risk factors for aneuploid segregant viability.

DNA unique or low-copy fragments were isolated from a genomic DNA library specific for the short (p) arm of human chromosome 5. These chromosome 5p-specific DNA fragments were used to analyze, by Southern blot experiments, somatic cell hybrids that retained either a normal chromosome 5 homolog or a homolog with a partial deletion of 5p, which was derived from either of two persons with the common human deletion syndrome, cri du chat or 5p− syndrome. In these studies, two classes of DNA fragments were identified, those located outside the region deleted in the persons with cri du chat and those located within the deleted region. This latter class of DNA probes will help to define, at the molecular level, a region of 5p that is critical in producing the phenotype associated with the cri du chat syndrome.

Molecular approach to analyzing the human 5p deletion syndrome, cri du chat

A family is reported with a segregating t(5;10)(q15;q11) translocation resulting in a child carrying trisomy 10p The clinical findings of the patient are compared with trisomy 10p and the Cri-du-Chat syndrome

Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship

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Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship