Tissue-limited mosaicism in Pallister-Killian syndrome - A case in point

被引：15

作者：

Choo S. ^{[1
]}

Teo S.H. ^{[1
]}

Tan M. ^{[1
]}

Yong M.H. ^{[1
]}

Ho L.Y. ^{[1
]}

机构：

[1] Department of Neonatology, Singapore General Hospital, Singapore 169608

来源：

Journal of Perinatology | 2002年 / 22卷 / 5期

关键词：

D O I：

10.1038/sj.jp.7210712

中图分类号：

学科分类号：

摘要：

We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis.

引用

页码：420 / 423

页数：3

共 29 条

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