An Additional Case of Partial Trisomy 22 with Multiple Clinical Malformations
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概要
- 論文の詳細を見る
A female infant with multiple malformations is described. She has 47, XX, +22q-(q13) karyotype based on G-banding analysis. Her mother and father are chromosomally and clinically normal.
- 日本学士院の論文
著者
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Kadotani Tetsuji
The Kadotani Med. Res. Found
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KATANO Takashi
Pediatric Department, Hiroshima City Hospital
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MURAKAMI Motochiyo
Pediatric Department, Hiroshima City Hospital
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SHIOTE Akihiro
Pediatric Department, Hiroshima City Hospital
関連論文
- Reconfirmation of a previously reported de novo case of partial 7q trisomy by means of whole chromosome painting
- 37. A chromosome study on congenital central nervous anomaly(Abstracts of the 50th Annual Meeting of the Society of Chromosome Research)
- Seven cases of transmitted chromosomal abnormalities(Abstracts of the 49th Annual Meeting of the Society of Chromosome Research)
- A chromosomal study on 22 cases of congenital neural tube defects
- A chromosome study on cerebral cortical dysplasia(Abstracts of the 48th Annual Meeting of the Society of Chromosome Research)
- A case of reciprocal translocation (3p;11q) and inversion (3p)(Abstracts of the 48th Annual Meeting of the Society of Chromosome Research)
- Medical chromosomal analyses(Abstracts of the 49th Annual Meeting of the Society of Chromosome Research)
- Chromosomal fragile sites in the parents and their babies
- 32. Chromosome studies on uterine liomyoma tissue(Abstracts of the 50th Annual Meeting of the Society of Chromosome Research)
- A cytogenetic study of fragile sites on Down's syndrome.
- A case of mental retardation having pericentric inversion on No. 9 chromosome (inv(9)(p11q13)).
- A chromosomal study on 43 cases with mental retardation.
- A case of marker chromosome mosaicism with mental retardation.
- A chromosomal study on 61 cases with mental retardation.
- An additional case of partial trisomy for the No. 15 chromosome.
- A case of mosaic ring chromosome No. 22 with the mental retardation.
- A 45, X/46, XY, del(Y)(q11) mosaicism in a phenotypically normal male adult.
- Elongated long arm of No. 1 chromosome in heavy mental retardates.
- A case with the interstitial deletion of the long arm of no. 5 chromosome.
- A case of down's syndrome with primary hypothyroidism.
- A chromosomal aberrations on senile dementia.
- A case of a ring chromosome No. 22 with mental retardation.
- A chromosomal study on 56 cases with heavy mental retardation and behavior disorders.
- The effect of caffeine on the fragile sites in newborns.
- Elongated long arm of No. 9 chromosome in heavy mental retardates.
- A chromosome study of the patients with heavy mental retardation.
- A case of partial monosomy for the long arm of the no. 9 chromosome.
- A chromosomal study on the 56 cases of cerebral palsy.
- A study of the fragile sites in the cases with ring chromosome No. 22.
- A case of heavy mental retardation with cerebral palsy having pericentric inversion on No. 9 chromosome (inv(9)(p11q13)).
- A case with a long arm duplication of the No. 7 chromosome.
- A chromosomal study on 121 cases with heavy mental retardation.
- A chromosomal study on the 42 cases of the handicapped children.
- Chromosome studies on four patients with Alzheimer's disease.
- A case of XO-male newborn with multiple malformations.
- A Case of Partial Trisomy for the Long Arm of the X Chromosome
- A Case of Partial Trisomy 22 without Cat-Eye Stigmata
- Further Cytogenetic Studies on 105 Cases from Genetic Counseling
- A Chromosomal Study of 100 Cases with Congenital Defects from Genetic Counseling at the Hiroshima City Welfare Center for the Handicapped Children
- An Additional Case of Partial Trisomy 22 with Multiple Clinical Malformations
- A case of holoprosencephaly with familial inv(9)(p11q13).
- A case of a female infant with terminal deletion of the long arm of No. 4 chromosome.
- A case of partial trisomy 4q resulting from familial (4;9)(q23;p24) translocation.
- Clinical and cytogenetic features of a case with trisomy 22.
- A case of slight anemia with the long arm interstitial deletion of No. 5 chromosome (46, XY, 5q-).
- A case of partial 9q trisomy.
- A case of partial monosomy for the short arm of the chromosome No. 9.
- A Case with a Long Arm Duplication of the No. 3 Chromosome
- A chromosome study of the congenital defectives and their relatives seeking genetic advices.
- A case of partial trisomy for the short arm of chromosome 9.
- Two siblings with the XY-female having heavy mental retardation from the parent with the normal phenotype.
- A Case of 46, XX/46, XX, r(9) with Severe Mental Retardation
- The Incidence of Satellite Associations in D- and G-Group Chromosomes and Maternal Ageing
- A case of partial trisomy for the long arm of the No. 15 chromosome.
- Fragile sites in newborns.
- Cytogenetic Data of 92 Cases Obtained in the Kojika-Gakuen, an Institution for Severe Physically and Mentally Retarded Patients
- Partial Trisomy 3q22 Involving the No. 15 Short Arm without Association with Cornelia de Lange Syndrome
- A case with partial monosomy 10p.
- A chromosome study on the 91 cases of the mentally retarded men.
- An 18p- Case with Severe lower Abdominal Deformities
- A case of the Prader-Willi syndrome having the interstitial deletion of No. 15 chromosome.
- A case of X/XX/Xr(X) derived from the father with the chromosome aberrations.
- A chromosome study on the 751 cases of the congenital defectives and their relatives.
- A chromosome study of a patient with Wilms' tumor.
- A case with inv(9)(p11q13).
- A case of 1qh+, t(3;4)(q23;p14).
- The fragile sites in chromosomes on a case with Prader-Willi syndrome.