Determination of the breakpoints and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings

Naritomi, Kenji; Hirayama, Kiyotake

doi:10.1007/bf01891242

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Cited by 3 publications

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Ring Chromosome 22

Phelan

2024

Human Ring Chromosomes

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Ring Chromosome 22

Phelan

2024

Human Ring Chromosomes

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Five new subjects with ring chromosome 22

Ishmael

Cataldi

et al. 2003

Clinical Genetics

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Ring chromosome 22, a rare cytogenetic finding, was first described by Weleber et al. in 1968. Since then approximately 50 patients have been reported in the medical literature. We describe five previously unreported subjects with ring chromosome 22 syndrome, summarize the clinical findings of reported patients from the literature and discuss the involvement of the ring chromosome and clinical outcome. Our subjects demonstrated the prominent features of this syndrome including mental retardation, hypotonia, motor delay, lack of speech, full eyebrows, and large ears. In addition, two of our subjects had central nervous system malformations and regression. The lack of consistent physical abnormalities in our subjects further supports no consistent phenotype manifestations in this cytogenetic syndrome. The variable clinical manifestations seen in ring chromosome 22 subjects may be associated with loss of chromosome 22 sequences near the telomere or attributed to the genetic background of each subject. Similarly, recessive alleles unmasked by the deletion could also contribute to the phenotype.

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Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.

Narahara

Takahashi

Murakami

et al. 1992

Journal of Medical Genetics

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A 7 month old girl with psychomotor retardation, hypotonia, and minor malformations was found to have a terminal deletion of the long arm of chromosome 22, del(22)(ql3.31). The partial deficiency of arylsulphatase A (ARSA) and the normal level of NADH diaphorase 1 (DIAl) suggests that the ARSA locus can be regionally assigned to 22q13.31-+qter and the DIAl locus can be excluded from the same segment. This report is the third published case with a terminal 22q deletion.Partial monosomy 22 has been reported in relatively few cases. Most of them have an r(22), and there have been only two instances of a terminal deletion of the long arm.' 2 We describe here another patient with a terminal 22q deletion. Gene dosage studies of arylsulphatase A (ARSA) and diaphorase 1 (DIAl) supported their localisations on the distal long arm of chromosome 22.

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Determination of the breakpoints and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings

Cited by 3 publications

References 15 publications

Ring Chromosome 22

Ring Chromosome 22

Five new subjects with ring chromosome 22

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.

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