Case Reports in Genetics / 2013 / Article / Tab 1

Case Report

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Table 1

Clinical and cytogenetic findings in prenatal diagnosis of trisomy 10.

Farrell et al. (1994) [2] Schw rzler et al. (1999) [3]Knoblauch et al. (1999) [4] Brizot et al. (2001) [5]Present case

Maternal age3232361831
Gender F M M M M
Gestational age of diagnosis (weeks) 15 12 13 12 10
Increased nuchal translucency + 4.7 mm 5.4 mm 2.7 mm
Hygroma colli +
IUGR + + +
Generalized oedema + +
Facial dysmorphism + + + +
 Prominent forehead + +
 Low set ears + + + +
 Micrognathia/retrognathia + + + +
Cleft lip/palate + + +
Limbs defects + + + + +
 Radial agenesis Bilateral
 Deformity of hands/fingersDuplicated right thumbLeft hypoplastic clenched V finger Hypoplastic 3rd fingerBilateral hand ectrodactyly
  Deformity of feet/toes Right 2/3 syndactyly of toes Hypoplastic left toes Bilateral talipes Proximally placed left first toe Syndactyly 2/3/4 right toes Agenesis left toes Rockerbottom feet
Bilateral talipes Rockerbottom feet Bilateral talipes
Cardiac malformationsAtresia of tricuspid valve Hypoplastic right ventricule
ASD
DORV
VSD
Renal agenesisRight kidneyRight kidneyLeft kidney
Other Right lung agenesis Diaphragmatic hernia Liver agenesis Microcephaly
Corpus callosum agenesis Hypoplastic penis Imperforate anus
Intestinal malrotation
Cytogenetic analysis
 Tissues/% trisomic cells Amniocytes/100%
Fetal Skin/100%
CVS/100%CVS/95%
Fetal skin/38%
CVS/100%
Fetal blood/100%
Amniocytes/80%
Outcome
 Pregnancy termination + 13 + 3 weeks15 weeks11 + 3 weeks
(fetal reduction)
 Stillborn 35 + 4 weeks

(+) Present; (−) absent.
ASD: atrial septal defect; DORV: double outlet right ventricule; IUGR: intrauterine growth retardation; VSD: ventricular septal defect.

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