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Literature DB >> 9089049

Derivative Y chromosome resulting from a t(Y;15) (q12;q11.2) in a boy with Prader-Willi syndrome.

Y Suzuki¹, I Sasagawa, T Sawamura, M Ishigooka, H Kaneko, Y Kubota, T Nakada.

Abstract

Chromosome analysis of peripheral lymphocytes from a boy with Prader-Willi syndrome showed the presence of 45 chromosomes, including der(Y) resulting from a t(Y;15) (q12;q11.2). In situ hybridization using DYZ3 and D15S11 showed a positive signal and negative signal in derivative Y chromosome, respectively. The deficiency of 15pter q11.2 may not influence the clinical manifestation of Prader-Willi syndrome.

Entities: Disease Species

Mesh：

Year: 1996 PMID： 9089049 DOI： 10.1007/bf02550730

Source DB: PubMed Journal: Int Urol Nephrol ISSN： 0301-1623 Impact factor: 2.370

7 in total

1. Chromosome 15 in floppy infants.

Authors: A C Berry; A J Whittingham; B G Neville
Journal: Arch Dis Child Date: 1981-11 Impact factor: 3.791

2. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Authors: J H Knoll; R D Nicholls; R E Magenis; J M Graham; M Lalande; S A Latt
Journal: Am J Med Genet Date: 1989-02

1 in total

1. Prader-Willi Syndrome: Clinical and Genetic Findings.

Authors: Merlin G Butler; Travis Thompson
Journal: Endocrinologist Date: 2000-07

1 in total

Derivative Y chromosome resulting from a t(Y;15) (q12;q11.2) in a boy with Prader-Willi syndrome.

1. Chromosome 15 in floppy infants.

2. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

3. Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?

4. Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences.

5. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

6. Prader-Willi syndrome: current understanding of cause and diagnosis.

7. Prader-Willi syndrome: consensus diagnostic criteria.

1. Prader-Willi Syndrome: Clinical and Genetic Findings.