Central diabetes insipidus in a newborn with deletion of chromosome 7q
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摘要We report an infant with midline craniofacial defects and holoprosencephaly due to chromosome 46, XY, del (7) (pter-->q34) who presented at 1 week of age with central diabetes insipidus, The importance of hypothalamic-pituitary endocrine investigation in patients with this syndrome, and more generally, in patients with midline craniofacial malformation or holoprosencephaly is emphasized. As infants with chromosome 7q deletion bear close phenotypic resemblance to infants of Trisomy 13, chromosomal confirmation and karyotype banding is mandatory to establish an accurate diagnosis and for genetic counselling of their parents.
著者Ng PC, Lee CH, Fok TF, Lam STS, Chan YL, Wong W, Cheung KL, Chan WK
期刊名稱Journal of Paediatrics and Child Health
詳細描述(Abstracts from the 9th Asian Congress of Paediatrics).
出版年份1997
月份8
日期1
卷號33
期次4
出版社BLACKWELL SCIENCE
頁次343 - 345
國際標準期刊號1034-4810
電子國際標準期刊號1440-1754
語言英式英語
關鍵詞7q deletion; central diabetes insipidus; chromosome; holoprosencephaly
Web of Science 學科類別Pediatrics; PEDIATRICS

上次更新時間 2020-21-09 於 01:42