Background
Patient/source | Our patient | Patients TB/LB from Joyce et al. [13] | Patient DP from Monk et al. [17] | Patients HC/AC from Monk et al. [16] | Patient from Eggermann et al. [6] (decipher 285981) | Decipher 289205 | Decipher 276327 | ISCA nssv579045 |
---|---|---|---|---|---|---|---|---|
Genomic location (hg19) | chr7:50654827-5122921 | chr7:42029531–51138357 (D7S691-D7S242) | chr7:40742989–50861159 (D7S1769-GRB10) | chr7:41392336–54000000 (RP5-953B5-7p11.2) | chr7:47034222–52175639 | chr7:50713413-50982532 | chr7:43566637-51282735 | chr7:33367924-61831899 |
Duplication size | 574Kb | ~10 cM | ~10 cM | >10 cM | 5.1 Mb | 270Kb | 7.72 Mb | 28.5 Mb |
Inheritance/orign |
de novo/maternal | LB: maternal |
de novo/maternal | AC: maternal | de novo/paternal | inherited/paternal |
de novo/unknown | unknown |
TB: paternal | HC: unknown | |||||||
Phenotype | SRS | SRS | SRS | SRS-like | overgrowth, DD, microcephaly, seizure | hypotonia, GDD | muscular hypotonia | FTT, GDD, large eyes, microcephaly, short stature, triangular face |
Detection method | array | karyotype/FISH | karyotype/FISH | karyotype/FISH | array | array | array | array |
Genes involved (Refseq) |
GRB10 and part of COBL
| >50 genes | >50 genes | >50 genes | >20 genes | Part of GRB10
| >40 genes | >180 genes |
Methods
Clinical report
Karyotyping and chromosomal microarray analysis
Confirmation of GRB10 duplication
GRB10 expression level
Measurement of IGF1 and IGFBP3
Sequencing of the fibroblast growth factor receptor-3 gene (FGFR3)
Results
Discussion
Clinical abnormalities | Achondroplasia (ACH) | Silver-Russell syndrome (SRS) | Our patient |
---|---|---|---|
Prenatal IUGR | - | + | + |
Special face | |||
macrocephaly | - | + | + |
broad foreheads | + | - | + |
pointed | - | + | + |
triangular shaped | - | + | + |
nose bridge collapse | + | - | + |
small chins | - | + | + |
Hand | |||
a trident configuration of the hands | + | - | + |
fifth finger clinodactyly | - | + | + |
Body | |||
asymmetry of limbs | - | + | + |
vertebrae | scoliosis | thoracic kyphosis | Scoliosis and thoracic kyphosis |
Hypotonia | - | + | + |
Developmental delay | - | + | + |
Delayed speech | - | + | + |
Intellectual disability | - | + | + |
Feeding difficulties in early childhood | - | + | + |
Snoring (coarse breath sounds) | + | - | + |