TABLE 1.
ID | Gender | Diagnosis Age | Premature | Deceased | Associated Clinical Conditions | Familial Clinical History |
---|---|---|---|---|---|---|
P01 | M | 42 months | N/A | ... | ... | ... |
P02 | M | 12 months | ... | ... | Chronic hypomagnesemia and growth hormony deficiency | ... |
P03 | F | 18 months | N/A | Yes | ... | ... |
P04 | M | 9 months | ... | ... | ... | cancer (paternal uncle - leukemia) |
P05 | F | 36 months | ... | ... | ... | ... |
P06 | M | 9 months | ... | ... | ... | ... |
P07 | M | 17 years | ... | Yes | Congenital hepatomegaly | ... |
P08 | M | 54 months | ... | Yes | ... | ... |
P09 | M | 30 months | ... | ... | Renal dysfunction (non-functional left kidney) | ... |
P10 | F | 36 months | ... | ... | Idiopathic early telarca | ... |
P11 | F | 1 month | ... | ... | Syndromic - congenital HB and unilateral renal agenesis | cancer (maternal grandmother - breast; paternal great-grandfather - prostate) |
P12 | M | 19 months | … | … | … | cancer (paternal great-grandfather melanoma and maternal great-grandfather lung (smoker) |
P13 | M | 28 months | Yes | ... | Syndromic—craniosynostosis, facial dysmorphisms, developmental delay | deceased older sisther (prematurity) |
P14 | M | 7 months | ... | ... | ... | ... |
P15 | M | 7 months | ... | ... | ... | ... |
P16 | M | 12 months | ... | ... | ... | ... |
P17 | F | 58 months | ... | Yes | Syndromic—Hirschsprung disease, protruding ears, hypertelorism, nail dysplasia, developmental delay | |
P18 | M | 17 months | Yes | ... | Syndromic—Hirschsprung disease, congenital ileal atresia, congenital bilateral cataract, sensorineural deafness, developmental delay | older sister—congenital biletaral cataract; older brother - intestinal atresia (terminal ileum) |
P19 | M | 2 months | ... | ... | ... | ... |
P20 | M | 7 months | Yes | ... | Metabolic bone disease | ... |
P21 | M | 5 months | ... | ... | Congenital HB | ... |
P22 | M | 6 months | Yes | ... | ... | ... |
P23 | M | 9 months | ... | ... | ... | ... |
P24 | F | 15 months | Yes | ... | Syndromic—craniofacial dysmorphisms, nail dysplasia, developmental delay | ... |
P25 | M | 20 months | ... | ... | ... | ... |
P26 | F | 8 months | ... | ... | ... | ... |
P27 | F | 6 years | ... | ... | ... | cancer (familial adenomatous polyposis - mother, sister, maternal uncle) |
P28 | M | 4 months | ... | ... | Syndromic—craniosynostosis and developmental delay | ... |
P29 | M | 17 months | … | ... | Syndromic—postnatal microcephaly, congenital malformations of the VACTERL spectrum, developmental delay | cancer (paternal cousin - central nervous system in childhood); maternal schizophrenia |
P30 | F | 15 months | Yes | ... | Syndromic—craniofacial dysmorphisms, short neck, polysyndactyly, laryngomalacia, severe bronchodysplasia, swallowing disorder, developmental delay | cancer (several family members); paternal cousin with polysyndactyly |
F: female; M: male.
N/A- Not available; CPG, cancer predisposition gene; AD, autosomal dominant Inheritance; AR, autosomal recessive inheritance.