Report of a deletion 11 (qter→q23.3) and short review of the literature
✍ Scribed by W. Küster; H. J. Gebauer; F. Majewski; H. G. Lenard
- Book ID
- 104779213
- Publisher
- Springer
- Year
- 1985
- Tongue
- English
- Weight
- 608 KB
- Volume
- 144
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
✦ Synopsis
Long-term assessment of chlorambucil in children with nephrotic syndrome who fail to respond adequately to corticosteroids.
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## Abstract A patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3→qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Compute
The XmnI genotype at the apolipoprotein A-I locus was heterozygous in a boy with partial deletion of the long arm of chromosome 11, del(11)(q23.3----qter). The apolipoprotein A-I gene, previously assigned to chromosome region 11q23----q24, has been more specifically localized to 11q23 by excluding t
We report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter+q13::q15+qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, vdgus heels with flat feet, and congenital heart defect seem to form part of a specific de
A male infant with multiple congenital anomalies was found to have a deletion of 7q [46,XY,del(7)(pter+ql1.2:: q22-3qter)l. The father had a balanced rearrangement involving chromosomes 7 and 9, interpreted as 46,XY,dir ins(9;7) (9pter+ 9p12::7q22+ 7q11.2:: 9p12-3 9qteq7pter-3 7q11.2 :: 7q22-3 7qter