Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome

Goodart, Sheryl A.; Butler, Merlin G.; Overhauser, Joan

doi:10.1007/bf02346193

Cited by 15 publications

(9 citation statements)

References 23 publications

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“…No clinical details regarding these brothers and a paternal uncle and a nephew with monosomy 5p, who were diagnosed based on photographs, were furnished. In the 5p monosomy syndrome, the reported familial cases with partial monosomy 5p are usually due to parental translocations or inversions (Kushnick et al 1984;Goodart et al 1996). An unusual case is that of a terminal deletion 5p15.2-pter described in Wve members of a threegeneration family, in which the deleted chromosome was transmitted directly from the parents to their children (Fang et al 2008).…”

Section: Discussionmentioning

confidence: 97%

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

et al. 2008

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A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a t(5;15)(p13.3;p12) translocation is reported. The translocation was present in four generations with eight balanced carriers. This is the first molecular-cytogenetic and clinical study with both syndromes present in the same family. Using fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) probes, the breakpoint was mapped to 5p13.3, in the interval corresponding to the BAC clone RP11-1079N14, thereof resulting a 5pter-5p13.3 deletion or duplication of approximately 32 Mb. These chromosome imbalances can be considered pure, since the other imbalance produced involving chromosome 15p has no phenotypic effect. The presence of several individuals with 5p monosomy and 5p trisomy in the same family is valuable for a better delineation of both syndromes.

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Section: Discussionmentioning

confidence: 97%

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

et al. 2008

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“…Double pericentric inversions of chromosome 5p are rare; however one case has been reported in the literature. A mother and a son both presented with the cat‐like cry and some facial dysmorphism, but without the severe cognitive impairment [Goodart et al, ]. Literature review indicates variability even in patients with the classic deletion.…”

Section: Discussionmentioning

confidence: 99%

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri‐du‐chat syndrome in addition to a partial duplication of CTNND2

Sardina

Walters

Singh

et al. 2014

American J of Med Genetics Pt A

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Cri-du-chat is a rare congenital syndrome characterized by intellectual disability, severe speech/developmental delay, dysmorphic features, and additional syndromic findings. The etiology of this disorder is well known, and is attributed to a large deletion on chromosome 5 that typically ranges from band 5p15.2 to the short arm terminus. This region contains CTNND2, a gene encoding a neuronal-specific protein, delta-catenin, which plays a critical role in cellular motility and brain function. The exact involvement of CTNND2 in the cognitive functionality of individuals with Cri-du-chat has not been fully deciphered, but it is thought to be significant. This report describes an 8-year-old African-American female with a complex chromosome 5 abnormality and a relatively mild case of cri-du-chat syndrome. Because of the surprisingly mild cognitive phenotype, although a karyotype had confirmed the 5p deletion at birth, an oligo-SNP microarray was obtained to further characterize her deletion. The array revealed a complex rearrangement, including a breakpoint in the middle of CTNND2, which resulted in a partial deletion and partial duplication of that gene. The array also verified the expected 5p terminal deletion. Although the patient has a significant deletion in CTNND2, half of the gene (including the promoter region) is not only preserved, but is duplicated. The patient's milder cognitive and behavioral presentation, in conjunction with her atypical 5p alteration, provides additional evidence for the role of CTNND2 in the cognitive phenotype of individuals with Cri-du-chat.

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“…More rarely, patients with complex or mosaic karyotypes have been described. Patients reported with complex karyotypes include a patient with maternal inheritance of a double pericentric inversion chromosome 5 [inv(5)(p15.1q31)inv(5)(p14q12))] and some features of Cri du chat syndrome [Goodart et al, 1996], a patient with de novo inv(5)(p15q22) and del(5)(p15) and Cri du chat syndrome [Rivera et al, 1987], and one patient with a complex rearrangement involving de novo deletion and inverted duplication of 5p with the characteristic cry but without other clinical features of Cri du chat syndrome [Sreekantaiah et al, 1999]. Patients with mosaic karyotypes have also been reported [Romano et al, 1991; Perfumo et al, 2000; Mainardi et al, 2001; Chen et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia

Tsao

Wenger

2005

Am. J. Med. Genet.

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Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5. The deleted segment on 5p includes the region implicated in the catlike cry as well as sequences implicated in development of facial dysmorphism and mental retardation. This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia.

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Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome

Cited by 15 publications

References 23 publications

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri‐du‐chat syndrome in addition to a partial duplication of CTNND2

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia

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