Table 1.
Phenotypes of partial 13q trisomy and partial 10p monosomy.
| Cytogenomic findings, family history, and clinical features | Partial 13q trisomy | Partial 10p monosomy | First case Liu et al. 1986 [3] |
Second case Yip et al. 1990 [4] |
Third case Roos et al. 2006 [5] |
This case |
|---|---|---|---|---|---|---|
| Karyotype | 46,XX,der(10) | 47,XX,t(10:13)(p13:q22), | 46,XY,der(10) | 46,XX,der(10)t(10;13) | ||
| t(10;13)(p15;q22)mat | +der(13)t(10;13)mat | t(10;13)(p15.1;q34) | (p15.3:q21.33)mat | |||
|
| ||||||
| Genomic coordinate | D10S2488−, | (chr10:126,161–2,465,089)x1, | ||||
| D13S296+ | (chr13:67,779,708–114,123,540)x3 | |||||
|
| ||||||
| Family history | Maternal t(10;13) | Maternal t(10;13) | De novo | Maternal t(10;13) | ||
| NL : CBT : SAB : ND : Affected* | (NA) | 4 : 9 : 5 : 2 : 1 | (NA) | 0 : 0 : 1 : 2 : 1 | ||
|
| ||||||
| Clinical features | ||||||
| Psychomotor retardation | + | + | + | + | + | + |
| Low set ears | + | − | + | / | + | + |
| Hypertelorism | + | − | + | − | + | |
| Thin upper lip | + | − | + | / | + | + |
| Long philtrum length | + | − | + | / | / | + |
| Wide depressed nasal bridge | + | − | + | / | / | + |
| High arch palate | + | − | + | / | + | + |
| Short broad neck | + | − | − | / | + | + |
| Cryptorchidism | + | − | − | − | − | |
| Hemangioma | + | − | + | / | + | + |
| Polydactyly | + | − | + | / | − | + |
| Renal defect | − | + | − | / | − | − |
| Skeletal anomalies | − | + | + | + | − | − |
*Ratio of cases in a pedigree. NL: normal; CBT: carrier of balanced translocation; SAB: spontaneous abortion; ND: newborn death. NA: not available.