Table 3

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)mat8 y/16 yProfound 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)patPrenat/1 yFetoplacental hydrops, MR, chylothorax, absence of sacral vertebral fusion
Two uncles with severe MR, facial dysmorphism, short stature
3 der(9p)t(9p;13q)matPrenat/1 mthOmphalocele, trigonocephaly, C syndrome, motor delay
Brother dead neonatally with cardiopathy and accessory spleen
4 der(16q)t(16q;19p)pat3 y/11 yModerate MR, facial dysmorphism, precocious puberty, short stature, hypernatraemia, behavioural disturbances
5 der(5p)t(4p;5p)mat2 y/15 yModerate MR, triangular face, gingival hypertrophy, prominent incisors, ogival palate, posteriorly angulated ears, behavioural disturbances
6 der(10q)t(10q;16p)1 y/2 yModerate MR, hypoplasic penis, facial dysmorphism
7 del(2q)de novo5 y/7 ySevere MR, short stature, brachymetaphalangism, cone shaped epiphyses
Paternal origin
8 del(17q)de novo15 y/15 yModerate MR, cardiopathy, extreme thinness
9 del(6q)de novo8 y/14 yModerate MR, hypotonia, skeletal anomalies, epilepsy
Maternal origin
10 del(3q)de novo2 mth/1 yModerate MR, facial dysmorphism, horseshoe kidney, hypospadias
11 del(1q)de novo7 mth/7 mthSevere MR, corpus callosum agenesis, cardiopathy, short stature
Paternal origin
12 del(9q)de novo2 y/8 yModerate MR, facial dysmorphism
13 del(11p)de novo6 y/6 ySevere MR, epilepsy, West syndrome, metabolic acidosis, microcephaly, ogival palate, simplified ears, thick lips, micrognathia