IllnessUlna-mamma syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Ulna-Mamma syndrome
ID
US0040
Number of genes
1
Accredited laboratory test
Examined sequence length
2,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
TBX3 | 2172 | AD |
Informations about the disease
Clinical Comment
Developmental disorder with ulnar defects, mammary + apocrine gland hypoplasia + genital anomalies; delayed puberty, dental anomalies, short stature + obesity
Synonyms
- Alias: (Pallister) ulnar-mammary syndrome (TBX3)
- Alias: Schinzel syndrome (TBX3)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Q71.8
Bioinformatics and clinical interpretation
No text defined