Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0424605 (
developmental delay
)
8,158
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global
developmental delay
and who had a small duplication at Xp11.23. The case we present here is the first case showing the clinical features of Xp11.22-p11.23 duplication syndrome only involving synovial sarcoma, X breakpoint (
SSX
) genes:
SSX1
,
SSX3
,
SSX4
, and
SSX9
. This case report contributes to an expanding clinical spectrum of Xp11.22-p11.23 duplication syndrome.
...
PMID:A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum. 2970 8
