๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development

โœ Scribed by Freedenberg, Debra L.; Gane, Louise W.; Richards, Carolyn S.; Lampe, Megan; Hills, Jennifer; O'Connor, Rebecca; Manchester, David; Taylor, Annette; Tassone, Flora; Hulseberg, Dennis; Hagerman, Randi J.; Patil, Shivanand R.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
21 KB
Volume
85
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990730)85:3<197::aid-ajmg1>3.0.co;2-o

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Nephrotic syndrome, microcephaly, and de
โœ Meyers, Kevin E.C.; Kaplan, Paige; Kaplan, Bernard S. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 38 KB ๐Ÿ‘ 2 views

We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or

Fragile X syndrome and selective mutism
โœ Hagerman, R.J.; Hills, J.; Scharfenaker, S.; Lewis, H. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 10 KB ๐Ÿ‘ 2 views

This is the first report that details an association between fragile X syndrome (FXS) and selective mutism (SM). This 12-year-old girl with heterozygous full mutation at FMR1 has a long history of social anxiety and shyness in addition to SM. Her sister also has the full mutation and a history of SM

Multiple congenital anomalies in a fetus
โœ Nowaczyk, Malgorzata J.M.; Ramsay, Jennifer A.; Mohide, Patrick; Tomkins, Darrel ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 15 KB

Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)

Longitudinal assessment of adaptive and
โœ Fisch, Gene S.; Carpenter, Nancy J.; Holden, Jeanette J.A.; Simensen, Richard; H ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 34 KB ๐Ÿ‘ 1 views

As young fully mutated fragile X [fra(X)] males age, cognitive levels (IQ scores) and adaptive behavior levels (DQ scores) decline. Given the variable behavioral profiles reported previously, we wondered whether changes in specific attributes of adaptive behavior are related to declines in composite

Compound heterozygous female with fragil
โœ Linden, Mary G.; Tassone, Flora; Gane, Louise W.; Hills, Jennifer L.; Hagerman, ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 15 KB ๐Ÿ‘ 2 views

We report on a 15-year-old compound heterozygous young woman with fragile X syndrome who has a full mutation of 363 repeats on one X chromosome and a premutat i o n o f 1 0 3 r e p e a t s o n t h e o t h e r X chromosome. As predicted, subsequent testing demonstrated that her father carries a premu