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Literature DB >> 20086301

Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

Mahmut Balkan¹, Hatun Duran, Turgay Budak.

Abstract

Entities: Species

Mesh：

Year: 2009 PMID： 20086301 DOI： 10.1007/s12041-009-0049-3

Source DB: PubMed Journal: J Genet ISSN： 0022-1333 Impact factor: 1.166

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20 in total

1. Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters.

Authors: J Boyle; K Sangha; F Dill; W P Robinson; S L Yong
Journal: Am J Med Genet Date: 2001-06-01

2. Origin of a small metacentric chromosome: familial and cytogenic evidence.

Authors: K M Taylor; H L Wolfinger; M G Brown; D L Chadwick
Journal: Clin Genet Date: 1975-11 Impact factor: 4.438

3. 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

4. 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

5. Tetrasomy 18p caused by paternal meiotic nondisjunction.

Authors: T Eggermann; H Engels; C Apacik; B Moskalonek; J Müller-Navia; G Schwanitz; S Stengel-Rutkowski
Journal: Eur J Hum Genet Date: 1997 May-Jun Impact factor: 4.246

6. Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age.

Authors: E B Hook; P K Cross
Journal: Am J Hum Genet Date: 1987-02 Impact factor: 11.025

Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

1. Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters.

2. Origin of a small metacentric chromosome: familial and cytogenic evidence.

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

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

5. Tetrasomy 18p caused by paternal meiotic nondisjunction.

6. Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age.

7. Case report of tetrasomy 18p in a girl.

Review 8. De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.

9. Tetrasomy 18p: a distinctive syndrome.

Review 10. Sibs with tetrasomy 18p born to a mother with trisomy 18p.

1. A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect.

2. Tetrasomy 18p: case report and review of literature.