𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Deletion of chromosome region 18q21.1 ? 18q21.3 in a patient without clinical features of the 18q- phenotype

✍ Scribed by Engelen, J.J.M. ;Moog, U. ;Weber, J. ;Haagen, A.A.M. ;van Uum, C.M.J. ;Hamers, A.J.H.

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
117 KB
Volume
119A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Monosomy 18q syndrome and atypical Rett
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
✍ 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

Novel case of del(17)(q23.1q23.3) furthe
Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24)
✍ Mickelson, Elizabeth C. R.; Robinson, Wendy P.; Hrynchak, Monica A.; Lewis, M.E. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 40 KB πŸ‘ 2 views

We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)-(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date.