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18q Deletion syndrome in a child with steroid-17,20-lyase deficiency

✍ Scribed by Fred I. Chasalow; Sandra L. Blethen; Shirley M. Knight; Kutay Taysi


Book ID
118979261
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
517 KB
Volume
47
Category
Article
ISSN
0039-128X

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Monosomy 18q syndrome and atypical Rett
✍ Gustavsson, Peter; Kimber, Eva; WahlstrοΏ½m, Jan; AnnerοΏ½n, GοΏ½ran πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 25 KB πŸ‘ 3 views

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin