Table 1 Clinical findings in prenatally diagnosed cases with overlapping chromosome 4q terminal deletions
From: Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH
Studies | Russel et al. 2008[13] | Rossi et al. 2009[14] Case 1 | Rossi et al. 2009[14] Case 2 | Strehle et al. 2012[3] Case 1 | Curent Case 1 | Current Case 2 |
|---|---|---|---|---|---|---|
Deletion | 4q33-qter | 4q34.1-qter | 4q34.1-qter | 4q33-qter | 4q35.1-qter | 4q35.1-qter |
Size | - | 12.6 | 16.5 | - | 8.2 | 8.0 |
Start Seq. | Â | 178.5 | 174.6 | - | 182.7 | 182.9 |
End Seq. | Â | 191.1 | 191.1 | - | 190.9 | 190.9 |
Gestation age | 32 w | 13 w | - | 13 w | 19 w | 22 w |
Sex (M/F) | F | F | F | F | F | M |
Maternal age | 31 y | 33 y | n.d. | 43 y | 36 y | 28 y |
Pregnancy length | 34 wks | term | term | TOP at 18+5 w | TOP at 22 w | TOP at 24 w |
Birth weight (g) | 2,660 | 3,490 | 5th percentile | - | - | 692 |
Birth length (cm) | 45 | 53.5 | 5th percentile | - | - | 50 mm |
Birth OFC (cm) | n.d. | 36 | - | - | - | - |
Growth retardation | Yes | - | - | No | No | No |
Mental retardation | - | LD | Yes | - | - | - |
Cranial/Facial abnormalities | Yes | Yes | Yes | Yes | Yes | Yes |
Microcephaly | No | - | - | - | No | No |
Macrocephaly | No | - | - | - | Yes | Yes |
Forehead | High | - | - | - | - | - |
Eyes | - | Iris coloboma | Myopia | - | - | Hypertelorism |
Nose | Small with narrow bridge and anteverted nares | - | Short nose | - | Depressed nasal bridge | Beaked |
Micrognathia | Yes | Yes | - | - | No | No |
Heart | VSD | VSD, PDA | - | Normal | No | No |
Limb abnormalities | Yes | - | - | - | yes | Yes |
Hands | 4th and 5th fingers bilaterally | - | Clinodactyly of the left and right fifth toes | - | Clinodactyly | Campodactyly |
Feet | Short | - | - | - | - | - |