Table 2.
Growth features of chromosomal instability syndromes.
| Syndrome “Loci” |
At-term birth weight/height | Microcephaly | Adult height | Adult onset diseases |
|---|---|---|---|---|
| Seckel Syndrome “ATR 3q23” |
Birth weight below −3 SD (2,055 g) | Severe −4 SD |
Postnatal growth retardation (below −5 SD) | Not reported |
|
| ||||
| Fanconi anemia “21 FANC genes” |
Median weight: 2.02 kg (1.5–2.6 kg) | In 20–50% | 50–60% of patients with median height <−1.8 SDS Women: −3.4 SDS Men: −4.4 SDS |
Cancer Diabetes mellitus Dyslipidemia Altered bone mineral density |
|
| ||||
| Nijmegen Breakage Syndrome “NBN 8q21” |
Mean weight/height girls 2.7 kg/51.4 cm Mean weight/height boys 2.8 kg/52.3 cm |
100% | Mean height for women −1.8 SDS Mean height for men −2.3 |
Cancer |
|
| ||||
| Bloom Syndrome “BLM 15q26.1” |
Mean weight 1.89 kg ± 0.35 kg for boys Mean weight 1.87 kg ± 0.35 kg for girls Mean height 43.4 cm ± 4.4 cm for boys Mean height 43.8 cm ± 2.8 cm for girls |
Mild microcephaly | Mean height 145.5 cm ± 7.6 cm males Mean height 141.5 cm ± 6.1 cm for females |
Cancer Diabetes mellitus |