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Xq27.3q28 duplication syndrome
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
ORPHA:261483Classification level: Disorder
- Trisomy Xq27.3-q28
- Trisomy Xq27.3q28
- Xq27.3-q28 microduplication syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q99.8
- OMIM: 300869
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been clinically and molecularly characterized in 3 male members from the same family.
Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features which are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause.
This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. This duplication was characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).
Transmission is X-linked.