𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Partial duplication of the short arm of chromosome 10

✍ Scribed by J. P. Fryns; J. Deroover; J. Haegeman; H. Berghe


Publisher
Springer
Year
1979
Tongue
English
Weight
226 KB
Volume
47
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis


A 21-year-old mentally retarded female with 10p12 trisomy is reported. She presented a slight craniofacial dysmorphism very similar to that found in the full 10p-trisomy syndrome. Other features usually found in full 10p trisomy, however, such as failure to thrive and internal malformations, were absent.


πŸ“œ SIMILAR VOLUMES


Partial monosomy of the short arm of chr
✍ J. Deroover; J. P. Fryns; C. Parloir; J. Haegeman; H. Berghe πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 278 KB

A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germ

Partial trisomy of chromosome 6q: An int
✍ Zneimer, Susan M.; Ziel, Barbara; Bachman, Ronald πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 3 views

We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a ''carp'' mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is

Duplication of the short arm of the X ch
✍ Cathy M. Tuck-Muller; Jose E. Martinez; Denise A. S. Batista; William G. Kearns; πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 958 KB

An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter-->p22.3::p22.3-->cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluo