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Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

✍ Scribed by P. Callier; L. Faivre; N. Marle; C. Thauvin-Robinet; J. Guy; A.L. Mosca; P. D'Athis; A. Masurel-Paulet; D. Assous; J.R. Teyssier; F. Huet; F. Mugneret


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
124 KB
Volume
149A
Category
Article
ISSN
1552-4825

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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