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Literature DB >> 6334486

Tetrasomy 18p: a distinctive syndrome.

H Rivera, M Möller, A Hernández, M A Enríquez-Guerra, R Arreola, J M Cantú.

Abstract

A 10-month-old girl with growth and psychomotor retardation and pyramidal signs, was found to have a 47,XX,inv(9)(p11q13),+i(18p) karyotype. Whereas the inverted chromosome was inherited from the father, the isochromosome was of unknown origin. A comparative analysis with 17 similar cases from the literature lead to the conclusion that the tetrasomy 18p actually constitutes a distinctive syndrome.

Entities: Disease Species

Mesh：

Year: 1984 PMID： 6334486

Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995

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Cited

8 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 in a male dysmorphic child in southeast Turkey.

Authors: Mahmut Balkan; Hatun Duran; Turgay Budak
Journal: J Genet Date: 2009-12 Impact factor: 1.166

4. 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

5. Regional assignment of the human thymidylate synthase (TS) gene to chromosome band 18p11.32 by nonisotopic in situ hybridization.

Authors: T Hori; E Takahashi; D Ayusawa; K Takeishi; S Kaneda; T Seno
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

Tetrasomy 18p: a distinctive syndrome.

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 in a male dysmorphic child in southeast Turkey.

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

5. Regional assignment of the human thymidylate synthase (TS) gene to chromosome band 18p11.32 by nonisotopic in situ hybridization.

Review 6. Sibs with tetrasomy 18p born to a mother with trisomy 18p.

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

8. A case report of prenatally diagnosed tetrasomy 18p.