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Central diabetes insipidus in a newborn with deletion of chromosome 7q

✍ Scribed by PC NG; CH LEE; TF FOK; STS LAM; YL CHAN; W WONG; KL CHEUNG; WK CHAN

Book ID
108954430
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
544 KB
Volume
33
Category
Article
ISSN
1034-4810

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Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,de1(7)(pter + q32:). This infant had cebocephaly with holoprosencephaly . These clinical findings are atypical for the 7qsyndrome, in which patients usually have growth and mental retardation with few facial abnormalities.