Translocations in Prader‐WiIIi syndrome

Joel Charrow; Nancy Balkin; Maimon M. Cohen

doi:10.1111/j.1399-0004.1983.tb01881.x

Translocations in Prader‐WiIIi syndrome

Joel Charrow^*, Nancy Balkin, Maimon M. Cohen

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

The Prader‐Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11‐q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12 [45, XX, t(11;15)(q25;q11–12)], resulting in the deletion of 15pter+ 15q11‐q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the “deletion hypothesis.”

Original language	English (US)
Pages (from-to)	304-307
Number of pages	4
Journal	Clinical genetics
Volume	23
Issue number	4
DOIs	https://doi.org/10.1111/j.1399-0004.1983.tb01881.x
State	Published - Apr 1983

Keywords

Chromosome translocations
Prader‐Willi syndrome

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1111/j.1399-0004.1983.tb01881.x

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title = "Translocations in Prader‐WiIIi syndrome",

abstract = "The Prader‐Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11‐q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12 [45, XX, t(11;15)(q25;q11–12)], resulting in the deletion of 15pter+ 15q11‐q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the “deletion hypothesis.”",

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AU - Charrow, Joel

AU - Balkin, Nancy

AU - Cohen, Maimon M.

PY - 1983/4

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N2 - The Prader‐Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11‐q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12 [45, XX, t(11;15)(q25;q11–12)], resulting in the deletion of 15pter+ 15q11‐q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the “deletion hypothesis.”

AB - The Prader‐Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11‐q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12 [45, XX, t(11;15)(q25;q11–12)], resulting in the deletion of 15pter+ 15q11‐q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the “deletion hypothesis.”

KW - Chromosome translocations

KW - Prader‐Willi syndrome

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Translocations in Prader‐WiIIi syndrome

Abstract

Keywords

ASJC Scopus subject areas

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