Ascertainment in the 13 cases with chromosome rearrangements
| Case |
Age at request of karyotype/ telomere test | Phenotype + family history | ||
| 1 der(1q)t(1q;12p)mat | 8 y/16 y | Profound MR, pachygyria, seizures, facial dysmorphism, scoliosis, toe syndactyly | ||
| A cousin with the same phenotype, a sister and another cousin with moderate MR, hypoplastic supraorbital ridges, large mouth, crowding of toes, and talipes equinovarus | ||||
| 2 der(6q)t(6q;19p)pat | Prenat/1 y | Fetoplacental hydrops, MR, chylothorax, absence of sacral vertebral fusion | ||
| Two uncles with severe MR, facial dysmorphism, short stature | ||||
| 3 der(9p)t(9p;13q)mat | Prenat/1 mth | Omphalocele, trigonocephaly, C syndrome, motor delay | ||
| Brother dead neonatally with cardiopathy and accessory spleen | ||||
| 4 der(16q)t(16q;19p)pat | 3 y/11 y | Moderate MR, facial dysmorphism, precocious puberty, short stature, hypernatraemia, behavioural disturbances | ||
| 5 der(5p)t(4p;5p)mat | 2 y/15 y | Moderate MR, triangular face, gingival hypertrophy, prominent incisors, ogival palate, posteriorly angulated ears, behavioural disturbances | ||
| 6 der(10q)t(10q;16p) | 1 y/2 y | Moderate MR, hypoplasic penis, facial dysmorphism | ||
| 7 del(2q)de novo | 5 y/7 y | Severe MR, short stature, brachymetaphalangism, cone shaped epiphyses | ||
| Paternal origin | ||||
| 8 del(17q)de novo | 15 y/15 y | Moderate MR, cardiopathy, extreme thinness | ||
| 9 del(6q)de novo | 8 y/14 y | Moderate MR, hypotonia, skeletal anomalies, epilepsy | ||
| Maternal origin | ||||
| 10 del(3q)de novo | 2 mth/1 y | Moderate MR, facial dysmorphism, horseshoe kidney, hypospadias | ||
| 11 del(1q)de novo | 7 mth/7 mth | Severe MR, corpus callosum agenesis, cardiopathy, short stature | ||
| Paternal origin | ||||
| 12 del(9q)de novo | 2 y/8 y | Moderate MR, facial dysmorphism | ||
| 13 del(11p)de novo | 6 y/6 y | Severe MR, epilepsy, West syndrome, metabolic acidosis, microcephaly, ogival palate, simplified ears, thick lips, micrognathia | ||