Diagnosis of Prader-Willi syndrome in the neonatal period

Wen Hui Tsai; Shio Jean Lin; Chun Ta Chen; Chiou Nan Shiue; Shang Chun Tsai; Chyi Jang Wu; Pao Lin Kuo

Diagnosis of Prader-Willi syndrome in the neonatal period

Wen Hui Tsai, Shio Jean Lin, Chun Ta Chen, Chiou Nan Shiue, Shang Chun Tsai, Chyi Jang Wu, Pao Lin Kuo

Department of Obstetrics Gynecology

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

1 Citation (Scopus)

Abstract

Prader-Willi syndrome (PWS) is usually diagnosed after the infantile period because the core features evolve with time and are usually subtle and are thus insufficient to meet the consensus diagnostic criteria before the age of 1 year. We report on a patient diagnosed with PWS during the neonatal period. The patient presented with poor feeding and activity, generalized hypotonia, and bilateral undescended testes. He was subsequently proven to have PWS because of the loss of a 100-bp paternal-specific band within the methylation-specific PCR amplifying promoter/exon 1 region of the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene.

Original language	English
Pages (from-to)	24-27
Number of pages	4
Journal	Clinical Neonatology
Volume	9
Issue number	2
Publication status	Published - 2002 Dec

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

Cite this

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title = "Diagnosis of Prader-Willi syndrome in the neonatal period",

abstract = "Prader-Willi syndrome (PWS) is usually diagnosed after the infantile period because the core features evolve with time and are usually subtle and are thus insufficient to meet the consensus diagnostic criteria before the age of 1 year. We report on a patient diagnosed with PWS during the neonatal period. The patient presented with poor feeding and activity, generalized hypotonia, and bilateral undescended testes. He was subsequently proven to have PWS because of the loss of a 100-bp paternal-specific band within the methylation-specific PCR amplifying promoter/exon 1 region of the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene.",

author = "Tsai, {Wen Hui} and Lin, {Shio Jean} and Chen, {Chun Ta} and Shiue, {Chiou Nan} and Tsai, {Shang Chun} and Wu, {Chyi Jang} and Kuo, {Pao Lin}",

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AU - Tsai, Wen Hui

AU - Lin, Shio Jean

AU - Chen, Chun Ta

AU - Shiue, Chiou Nan

AU - Tsai, Shang Chun

AU - Wu, Chyi Jang

AU - Kuo, Pao Lin

PY - 2002/12

Y1 - 2002/12

N2 - Prader-Willi syndrome (PWS) is usually diagnosed after the infantile period because the core features evolve with time and are usually subtle and are thus insufficient to meet the consensus diagnostic criteria before the age of 1 year. We report on a patient diagnosed with PWS during the neonatal period. The patient presented with poor feeding and activity, generalized hypotonia, and bilateral undescended testes. He was subsequently proven to have PWS because of the loss of a 100-bp paternal-specific band within the methylation-specific PCR amplifying promoter/exon 1 region of the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene.

AB - Prader-Willi syndrome (PWS) is usually diagnosed after the infantile period because the core features evolve with time and are usually subtle and are thus insufficient to meet the consensus diagnostic criteria before the age of 1 year. We report on a patient diagnosed with PWS during the neonatal period. The patient presented with poor feeding and activity, generalized hypotonia, and bilateral undescended testes. He was subsequently proven to have PWS because of the loss of a 100-bp paternal-specific band within the methylation-specific PCR amplifying promoter/exon 1 region of the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene.

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M3 - Article

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SN - 1381-3390

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JO - Clinical Neonatology

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IS - 2

ER -

Diagnosis of Prader-Willi syndrome in the neonatal period

Abstract

All Science Journal Classification (ASJC) codes

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