Table 1 Comparison of clinical and chromosomal features in 13q deletion syndrome with esophageal atresia
|  | Jackson et al. [28] | Walsh et al. [25] | Present patient |
|---|---|---|---|
Deleted region | 13q12 | 13q31.1qter | 13q31.3qter |
Karyotype | 46,XX,-13, + der(18)t(13;18)(q12;p11.2) | 46,XY,del(13)(q31.1) | 46,XX,del(13)(q32.1) |
Deletion size | ND | ND | 22.12Â Mb |
Parents karyotype | Normal | Normal | Normal |
Gestational age at delivery (weeks) | 36 | 39 | 38 |
Birth weight (g) | 1500 | 1860 | 1774 |
Outcome | Stillborn | Death at 2Â months due to to recurrent pulmonary and systemic infections | Discharged alive at 7Â months |
Esophageal atresia | Type C | Type C | Type A |
Vertebral defects | Bilateral cervical ribs | Incomplete vertebral arch,multiple notched thoracic vertebrae | Pleurocentrum in the thoracic vertebrae |
Anorectal malformations | None | Imperforate anus | Short anogenital distance |
Cardiac defects | Small VSD | VSD | None |
Renal malformations | None | None | None |
Limb defects | None | Absent thumbs, hypoplastic radi | Overlapping fingers |
Others | Poor skeletal ossification, persistent septum pellucidum anteriorly | Prenatal growth retardation, microcephaly, unusual facial features, penoscrotal transposition | DWM, right microphthalmia, left coloboma, hearing loss |