Prenatal Diagnosis of Supernumerary Chromosome Derivative (22) due to Maternal Balanced Translocation in Association with Diaphragmatic Hernia: a Case Report
✍ Scribed by R. A. Kadir; R. Hastings; D. L. Economides
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 64 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal translocation in the mother. Approximately 85 cases with an unbalanced karyotype 47,XX (or XY),+der(22),t(11;22) due to 3:1 meiotic disjunction in the parental translocation carrier have been reported in the world literature and only one of them was diagnosed prenatally. This is the first detailed case report of a supernumerary derivative (22) chromosome abnormality diagnosed prenatally in association with diaphragmatic hernia.