Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)

Figures & data

Figure 1 A) Facial view of the patient with GCPS-CGS at the age of 6 years. Note, broad nasal root and skull abnormality. B) and C) right and left foot with polydactyly and syndactyly.

Table 1 Genotype analysis in the GCPS-CGS interval

Marker’s position (Mb)a	Micro satellite marker	Gene	Cytogenetic position	Mother	Patientb	Father
30.08–p15.1	D7S2492	PLEKHA8	7p21–p11.2	185–181	181–179	179–193
32.04–p14.3	D7S2252	PDE1C	7p15.1–p14.3	251–251	251–249	249–249
35.34–p14.2	D7S2250			145–145	145–Δ	147–153
38.22–p14.1	D7S2497	STARD3NL	7p14–p13	195–210	210–Δ	202–202
41.09–p14.1	D7S2469			149–149	149–Δ	157–157
41.99–p14.1	D7S691	GLI3	7p13	137–143	143–Δ	143–139
44.47–p13	D7S667	NUDCD3	7p13–p12	117–120	120–Δ	117–117
46.08–p13	D7S519			262–262/264c	264–260	260–256
47.64–p12.3	D7S2506			168–180	168–152	152–172

Notes:

a Marker position in Mb and the corresponding cytogenetic location on the short arm of chromosome 7 are according to NCBI maps (see www.ncbi.nml.nih.gov);

b Markers deleted in patient are indicated by (Δ), the deletion interval including the GLI3 gene is highlighted;

c Allele sizes were hardly distinguishable.

Figure 2 A and B G-banded chromosomes 5 (left pair) and 7 (right pair) of the proband A) and his father B). In the proband, both chromosomes 5 show an inconspicious banding pattern, whereas one chromosome 7 (right homologue) shows an interstitial deletion of the short arm. In the father, a derivative chromosome 5 (right homologue) with an insertional translocation to the long arm was detected in addition to a deleted chromosome 7 (right homologue). C) examples of FISH experiments on chromosomes 5 (left pair) and 7 (right pair) of the proband’s father. The insertional translocation is highlighted with YAC 944c06 from 7p14.2. The subtelomeric 5q probe in red is distal to YAC 944c06 in green on the derivative chromosome 5 (right homologue). On the derivative chromosome 7, YAC 944c06 is missing, but YAC 959b03 (in red) is present at 7p14.3. D) schematic representation of breakpoints of chromosomal region 7p13 to 7p14. Microsatellite markers and YACs used for FISH characterization of the deletion are depicted along with a selection of genes located within the deleted region (boxed). Microsatellite markers present are depicted in bold. The minimal extent of the deletion is set in grey.