Table 1

Clinical characterstics of the patient compared with other cases with supernumerary ring chromosomes 18 and other abnormal chromosomes 18

Our case

[7]mother

[6]case 9

[5]

[28]

[29]case 18-2

[30]

[31]child 3

[32]

patients with supernumerary ring chromosomes 18

patients with abnormal chromosomes 18


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

Developmental delay/mental retardation

-

-

-

+

possibly

-

possibly

Dysmophic features

+

-

-

+

-

possibly

-

possibly

Hearth disease

-

+

Atrial septal defect

+

Single umbilical artery

+

Anal artresia

+

Dysplastic lumbar and sacral vertebrae

+

Penoscrotal hypospadia

+

Cryptorchism

+

Bifid scrotum

+

Vesico ureteral reflux

+

Trabeculated bladder

+

Radial dysplasia

+

Thumb hypoplasia

+

Preaxial polydactyly

+

VACTERL association

+

Pancreas fissum

+

Hypertrophy of the lower limb

+

Long tapering fingers

+

Elongated, thin feet

+

Vascular malformations

+

Splenomegaly

+

Size discrepancy kidneys

+

Renal arteriovenous malformations

+

Hydronephrosis

+

Esophageal varices

+

Short stature

+

Unilateral cleft lip and palate

+

Anotia with atresia

+

Low set ear

+

Micorgnathia

+

Rocker-bottom feet

+

Left index finger crossed over 3rd and 4th fingers

+

2nd toe crossed over 3rd toe

+

Open ductus botalli

+

+


van der Veken et al. Molecular Cytogenetics 2010 3:13   doi:10.1186/1755-8166-3-13

Open Data