Table 1 |
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Clinical characterstics of the patient compared with other cases with supernumerary ring chromosomes 18 and other abnormal chromosomes 18 |
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Our case |
[7]mother |
[6]case 9 |
[5] |
[28] |
[29]case 18-2 |
[30] |
[31]child 3 |
[32] |
|
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patients with supernumerary ring chromosomes 18 |
patients with abnormal chromosomes 18 |
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Described karyotype |
47,XY,+r(18)(q10q11.2) |
47,XX,+r(18)(p1?1q2?3)[2]/46,XX[98] |
47,XX,+r(18)[85%]/46,XX[15%] |
mos 47,XY,+r(18)[13]/46,XY[42] |
46,XX,dic(18;18)(q11.2;q21.3) |
47,XX,min(18)(:p11.1q11.2) |
mos +der(18)(p11.21q11.2)[68%] |
ins(18)(p13.2;q12.2q11.2) |
47,+min(18)(:p11.21q11.2:)[68%]/46[32%] |
|
Birth weight |
2670 g |
2500 g |
2948 g |
TOP 22wks 520 g |
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Developmental delay/mental retardation |
- |
- |
- |
+ |
possibly |
- |
possibly |
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Dysmophic features |
+ |
- |
- |
+ |
- |
possibly |
- |
possibly |
|
|
Hearth disease |
- |
+ |
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Atrial septal defect |
+ |
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Single umbilical artery |
+ |
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Anal artresia |
+ |
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Dysplastic lumbar and sacral vertebrae |
+ |
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Penoscrotal hypospadia |
+ |
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Cryptorchism |
+ |
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Bifid scrotum |
+ |
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Vesico ureteral reflux |
+ |
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Trabeculated bladder |
+ |
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Radial dysplasia |
+ |
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Thumb hypoplasia |
+ |
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Preaxial polydactyly |
+ |
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VACTERL association |
+ |
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Pancreas fissum |
+ |
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Hypertrophy of the lower limb |
+ |
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Long tapering fingers |
+ |
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Elongated, thin feet |
+ |
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Vascular malformations |
+ |
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Splenomegaly |
+ |
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Size discrepancy kidneys |
+ |
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Renal arteriovenous malformations |
+ |
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Hydronephrosis |
+ |
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Esophageal varices |
+ |
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Short stature |
+ |
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Unilateral cleft lip and palate |
+ |
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Anotia with atresia |
+ |
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Low set ear |
+ |
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Micorgnathia |
+ |
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Rocker-bottom feet |
+ |
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Left index finger crossed over 3rd and 4th fingers |
+ |
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2nd toe crossed over 3rd toe |
+ |
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Open ductus botalli |
+ |
+ |
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van der Veken et al. Molecular Cytogenetics 2010 3:13 doi:10.1186/1755-8166-3-13 |
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