Table 2. Clinical features of patients with interstitial or associated distal 2q37 deletions.
| Patient | P8a | P9a | P12a | P14a | Total cases (associated) | P5 (interstitial) |
|---|---|---|---|---|---|---|
| 2q37 Deletion sizeb (Mb) | 5 | 4.8 | 3.9 | 2.6 | 1.1 | |
| Cytogenetic localization | der(2)t(2;6)(q37.3;p25.3) | der(2)t(2;3)(q37.3;q29) | der(2)t(2;21)(q37.3;qter) | der(2)dup(2)(q37.2q37.3)del(2)(q37.3) | del(2)(q37.2q37.2) | |
| Parental origin of deleted allele | Mat | NA | Pat | Mat | 1Pat/2Mat | NA |
| Sex | M | M | F | M | 3 M/1 F | M |
| Age at evaluation | 7 years 10 months | 16 years | 16 years 1/2 | 7 years 10 months | 7 years 10 months | |
| Global developmental delay | Moderate | Mild | Moderate | Mild | 4/4 | Mild |
| Hypotonia | Axial | Distal muscular weakness | − | − | 2/4 | − |
| Autistic spectrum disorders | Stereotypies, light obsession | − | Obsessive disorders | − | 2/4 | − |
| Other behavioural problems | Ag, frustration intolerance, AD, sleeping difficulties | ADHD, sleeping difficulties | NA | − | 2/3 | − |
| Growth parameters | ||||||
| IUGR | − | − | + | − | 1/4 | − |
| Short stature (<−2 SD) | + | − | − | − | 1/4 | − |
| Thinness vs obesity/overweight BMI-for-agec | Overweight 18.3 (+1.5 SD) | − | − | − | Overweight 1/4 | Obesity 20.7 (>+2 SD) |
| Skeletal abnormalities | ||||||
| Brachydactyly (hand/foot rays) | 3, 4/4 | 3, 4, 5/2, 3, 4, 5 | 4/4, 5 | − | 3/4 | − |
| Broad hallux | + | + | − | + | 3/4 | − |
| Joint hypermobility | − | + | − | + | 2/4 | − |
| Asymmetrical limbs | − | + | − | − | 1/4 | − |
| Facial dysmorphism | ||||||
| Low and uncombable frontal hair | − | − | − | − | 0/4 | − |
| Frontal bossing | + | + | − | + | 3/4 | − |
| Thin and arched eyebrows | + | − | − | − | 1/4 | − |
| Narrow palpebral fissures | − | − | − | − | 0/4 | − |
| V-shaped appearence of nasal tip | + | + | + | − | 3/4 | − |
| Hypoplastic alae nasi | − | − | − | − | 0/4 | − |
| Smooth philtrum | + | + | − | + | 3/4 | − |
| Thin upper lip | + | + | + | + | 4/4 | − |
| Broad and square chin | − | − | + | − | 1/4 | − |
| Full cheeks | + | − | − | − | 1/4 | − |
| Deep-set ears | + | + | − | − | 2/4 | − |
| Other | Cryptorchidism, inguinal H, pyloric stenosis, WSN, congenital torticollis, clubfoot, oculomotor dyspraxia | Abnormal teeth enamel, umbilical H | Seizures | Cryptorchidism, left megaureter, long fingers, livedo | Retrocerebellar cyst | |
Abbreviations: AD, attention deficit; ADHD, attention deficit hyperactivity disorder; Ag, aggressiveness; BMI, body mass index; F, female; H, hernia; IUGR, intrauterine growth retardation; M, male; Mat, maternal; NA, not available; Pat, paternal; WSN, wide-spaced nipples.
a
Non-isolated 2q37 deletion.
b
Minimal deleted region.
c
WHO reference curves 2007.