๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p

โœ Scribed by Legare, Janet M. ;Sekhon, Gurbax S. ;Laxova, Renata


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
525 KB
Volume
53
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Maternal balanced translocation leading
โœ Chen, Zhong; Grebe, Theresa A.; Guan, Xin-Yuan; Notohamiprodjo, Mathilda; Nuttin ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 51 KB ๐Ÿ‘ 3 views

A 9-month-old boy with pre-and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies had the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearran

De novo partial duplications 1p: Report
โœ Garcia-Heras, Jaime; Corley, Norlela; Garcia, Mary F.; Kukolich, Mary K.; Smith, ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 22 KB ๐Ÿ‘ 3 views

We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth retardation, and tetralogy of Fallot. The other is a 10-monthold girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1p

t(15;21)(q15;q22.1)pat resulting in part
โœ Abeliovich, Dvorah; Dagan, Judith; Lerer, Israela; Silberstein, Shira; Katznelso ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 670 KB

T w o sibs, carriers of unbalanced products of the translocation t(15;21)(915;q22.l)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1).