Table 1 Clinical manifestations of the patients with sSMCs including region 14q11.2
From: 16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
Case # (no. in database) | de novo/inherited | Test methods | Final result of the sSMC | Clinical symptoms |
|---|---|---|---|---|
1 (14-O-q11.2/1-1) | de novo | cep 14/22; cep 15; cep 13/21 | 47,XY,+dic(14;15)(14pter → 14q11.2::15q11.1 → 15pter) [100%] | Normal |
2 (14-O-q11.2/2-1) | n.a. | M-FISH; subcenM-FISH | 47,XY,+dic(14)(:p11.1 → q11.1::p11.1 → q11.2:)[15]/46,XY[10] | Normal |
3 (14-O-q11.2/3-1) | n.a. | acrocenM-FISH; subcenM-FISH | 47,XX,+min(14)(pter → q11.2:)[40]/46,XX[60] | Normal female, fertility problems |
4 (14-O-q11.2/4-1) | n.a. | n.a. | 47,XY,+r(14)(::p11.2 → q11.2::)[100%] | Normal male, fertility problems - oligospermia |
5 (14-O-q11.2/5-1) | maternal | acrocenM-FISH; subcenM-FISH; Array CGH | 47,XY,+inv dup(14)(q11.2)[100%](1.79 MB) | Pregnancy outcome unknown but mother clinically normal |
6 (14-O-q11.2/5-2) | maternal | MLPA | 47,XY,+inv dup(14)(q11.2)[100%] | Abnormal first trimester screening; mother normal |
7 (14-W-q11.2/2-1) | n.a. | Array CGH | 47,XY,+r(14)(::p11.2 → q11.2::)[100%] (array-CGH data not available) | Hypogonadotopic hypogonadism, moderate mental developmental delay, precocious puberty, small hands, scoliosis |
8 (14-W-q11.2/2-2) | n.a. | cenM-FISH; subcenM-FISH | 47,XY,+r(14)(::p11.?2 → q11.2::)[14]/46,XY[16] | Normal, apart from dwarphism |
9 (14-U-16) | de novo | Different FISH-probes; subcenM-FISH; UPD-test | 47,XY,+min(14)(pter → q11.1 ~ q11.2:)[100%] maternal UPD 14 | No mental retardation; at 4 y all values <3rd centile (height 85 cm, weight 11.5 kg, OFC 47,5 cm); microcephaly, simian crease, developmental delay, small stature, hypotonic |
10 (14-W-q11.2/1-1) | n.a. | Array CGH | 47,+min(14)(pter → q11.2)[100%] (20.17 MB) | Dysmorphic features |