Medical history of five mUPD 16 cases investigated
| Case | Weight at birth (g) | Age at birth (wk) | No of cells counted at amniocentesis1-150 | No of trisomic cells observed/total No of cells counted | Features | Reference | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CVS | Placenta at birth | ||||||||||||
| Direct | Culture | ||||||||||||
| 1 | 350 | 24 | ND | 5/5 | 10/10 | 34/48 (71%) | Imperforate anus, large immature ears, simian crease on left hand, pulmonary hypoplasia, bilateral talipes: termination | 13 | |||||
| 2 | 520 | 28 | 50 | ND | ND | 8/29 (28%) | Imperforate anus, absent left umbilical artery, lungs collapsed with persistent hyaline membrane formation: died after 8 days | 13 | |||||
| 31-151 | 1690 | 40 | ND | ND | ND | 20/20 (100%) | Giant cell hepatitis at 6–8 weeks | — | |||||
| 4 | 1650 | 35 | 50 | 15/15 | 15/15 | ND | Coarctation of aorta, small muscular VSD (repaired at 2 months), tracheo-oesophageal fistula (repaired on day 10) | — | |||||
| 5 | 1390 | 34 | ND | 9/9 | 15/15 | 283/527 (53%) | White hair, small skin tags upper thorax, clinodactyly, right inguinal hernia, glandular hypospadias, marked scoliosis, right sided dislocation of radiohumeral articulation, pulmonary cystic changes with rudimentary bronchus on right hand side, cardiac murmur, atrioventricular canal defect, apnoeic episodes: died at 20 weeks | 14 | |||||
Each case was <3rd weight centile for gestational ages according to the 1988 Gardner-Pearson21 growth and development chart.
↵1-150 All amniocenteses showed 100% diploidy.
↵1-151 This case was diagnosed as IUGR at birth and placental tissue was taken at term and postnatal blood specimen from the baby followed. Cytogenetic discrepancy in the two different tissues led to the request for mUPD 16 analysis.
ND = not done.