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Literature DB >> 633320

Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.

L M Larson, W A Wasdahl, J H Saumur, M L Coleman, S M Jalal.

Abstract

Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to be possible isochromosomes of the long and short arms of a No. 18 chromosome.

Entities: Disease Species

Mesh：

Substances：
Azure Stains

Year: 1978 PMID： 633320 PMCID： PMC1012828 DOI： 10.1136/jmg.15.1.73

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

9 in total

1. Isochromosome 17 in a case of eosinophilic leukaemia. An abnormality common to eosinophilic and neutrophilic cells.

Authors: F Mitelman; A Panani; L Brandt
Journal: Scand J Haematol Date: 1975-05

2. Partial trisomy 7p associated with familial 7p;22q translocation.

Authors: L M Larson; W A Wasdahl; S M Jalal
Journal: J Med Genet Date: 1977-08 Impact factor: 6.318

3. A familial minute isochromosome.

Authors: D Mukerjee; W J Burdette
Journal: Am J Hum Genet Date: 1966-01 Impact factor: 11.025

4. A cytogenetic survey of 11,680 newborn infants.

Authors: P A Jacobs; M Melville; S Ratcliffe; A J Keay; J Syme
Journal: Ann Hum Genet Date: 1974-05 Impact factor: 1.670

5. Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.

Authors: H Müller; E M Bühler; E Signer; F Egli; G R Stalder
Journal: J Med Genet Date: 1972-12 Impact factor: 6.318

6. Isochromosomes arising from a human 'C'-autosome.

Authors: A K Sinha; J J Nora; S Pathak
Journal: Hum Hered Date: 1971 Impact factor: 0.444

7. The supernumerary isochromosome 18 syndrome (+ 18pu).

Authors: C J Condron; R J Cantwell; R L Kaufman; S B Brown; R J Warren
Journal: Birth Defects Orig Artic Ser Date: 1974

8. Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.

Authors: F Salamanca-Gómez; S Armendares
Journal: Ann Genet Date: 1975-12

9. 17 long arm isochromosome. A common anomaly in malignat blood disorders.

Authors: E Engel; L C McKee; J M Flexner; B J McGee
Journal: Ann Genet Date: 1975-03

9 in total

6 in total

Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.

1. Isochromosome 17 in a case of eosinophilic leukaemia. An abnormality common to eosinophilic and neutrophilic cells.

2. Partial trisomy 7p associated with familial 7p;22q translocation.

3. A familial minute isochromosome.

4. A cytogenetic survey of 11,680 newborn infants.

5. Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.

6. Isochromosomes arising from a human 'C'-autosome.

7. The supernumerary isochromosome 18 syndrome (+ 18pu).

8. Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.

9. 17 long arm isochromosome. A common anomaly in malignat blood disorders.

Review 1. Centric fission--simple and complex mechanisms.

2. Trisomy 18 with karyotype 47,XX,-18,+i psu dic(18p).

3. Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

4. Morphology alone does not make an isochromosome.

5. Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).

6. Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.