Table 2.
The cases with parental consanguinity
| Case #* | Age | Sex | Referring reasons | Size of HZ (Mb) | Estimated coefficient of inbreeding (F) | Post-testing information on mating type |
|---|---|---|---|---|---|---|
| 001 |
6 y |
F |
ID |
598 |
1/4 |
Brother-sister |
| 002 |
3 y |
M |
DD, DE, DF,RA |
839 |
1/4 |
No related |
| 003 |
18 y |
M |
DD, ID |
624 |
1/4 |
NA |
| 004 |
23 d |
F |
CA |
345 |
1/8 |
Uncle-niece |
| 005 |
7 y |
M |
DD |
383 |
1/8 |
1st cousins |
| 006 |
3 d |
M |
CA |
285 |
1/8 |
NA |
| 007 |
9 d |
M |
SZ |
338 |
1/8 |
Distantly related |
| 008 |
12 |
F |
DD, DF |
292 |
1/8 |
NA |
| 009 |
12 y |
F |
SKS, MD |
187 |
1/16 |
1st cousins |
| 010 |
9 y |
M |
SS |
196 |
1/16 |
1st cousins |
| 011 |
1 y |
M |
DD |
250 |
1/16 |
1st cousins |
| 012 |
7 y |
M |
DF, CA, RF |
208 |
1/16 |
1st cousins |
| 013 |
3 y |
M |
DD |
139 |
1/16 |
NA |
| 014 |
7 y |
F |
DD, DF, FT |
114 |
1/32 |
2nd cousins |
| 015 |
2 y |
F |
DD, FT |
85 |
1/32 |
From the same small town |
| 016 |
5 y |
M |
DD |
120 |
1/32 |
Consanguineous |
| 017 |
1 m |
F |
CA |
69 |
1/32 |
2nd cousins |
| 018 |
1 y |
F |
ID, GR, SS |
88 |
1/32 |
NA |
| 019 |
6 y |
F |
DD |
86 |
1/32 |
2nd cousins |
| 020 |
18 d |
M |
DF, MM |
72 |
1/32 |
NA |
| 021 | 3 y | F | DD | 96 | 1/32 | NA |
Abbreviations: CA congenital anomalies, DD developmental delay/disorder, DE diaphragmatic eventration, DF dysmorphic features, FT failure to thrive, GR growth retardation, ID intellectual disability, MD motor delay, MM multiple malformations, NA no information available, RA renal anomalies, RF renal failure, SKS scoliosis and kyphoscoliosis, SS short stature, SZ seizures. *Numbers are used for this publication only, not the real numbers used for patient management.