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Literature DB >> 14099762

MULTIPLE ANOMALIES ASSOCIATED WITH AN EXTRA SMALL AUTOSOME.

A FROLAND, G HOLST, E TERSLEV.

Abstract

Entities: Disease

Keywords: CHILD; CHROMOSOME ABNORMALITIES; TRISOMY

Mesh：

Year: 1963 PMID： 14099762 DOI： 10.1159/000129771

Source DB: PubMed Journal: Cytogenetics ISSN： 0011-4537

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Cited

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20 in total

1. De novo isochromosome 18p in a female dysmorphic child.

Authors: Smitha Ramegowda; Harshavardhan M Gawde; Abbas Hyderi; Mysore R Savitha; Zareen M Patel; Balasundaram Krishnamurthy; Nallur B Ramachandra
Journal: J Appl Genet Date: 2006 Impact factor: 3.240

2. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

Authors: D F Callen; C J Freemantle; M L Ringenbergs; E Baker; H J Eyre; D Romain; E A Haan
Journal: Am J Hum Genet Date: 1990-09 Impact factor: 11.025

3. Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

Authors: T Eggermann; H Engels; B Moskalonek; M M Nöthen; J Müller-Navia; E Schleiermacher; G Schwanitz; S Stengel-Rutkowski
Journal: Hum Genet Date: 1996-05 Impact factor: 4.132

MULTIPLE ANOMALIES ASSOCIATED WITH AN EXTRA SMALL AUTOSOME.

1. De novo isochromosome 18p in a female dysmorphic child.

2. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

3. Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.

4. [Tetrasomy 18p syndrome and hearing loss. An unusual case].

5. A familial minute isochromosome.

6. Supernumerary small ring chromosome.

7. Multiple anomalies associated with an extra small metacentric chromosome: modified Giemsa stain results.

8. An extra chromosomal centric fragment in an infant with stigmata of Down's syndrome.

9. 48,XY,21+, mar+mat: a case of trisomy 21 associated with an inherited small marker chromosome.

10. An extra small metacentric chromosome in association with multiple congenital abnormalities.