Dizygotic twin boys born after ICSI with maternal meiosis I-derived free trisomy 21 in the first and multiple congenital anomalies in the second: chance or common aetiology?: Case Report
| Autor: | Stephanie Schönekerl, Annegret Kujat, Dieter Kotzot, Ursula G. Froster, Dirk Hausen, Renaldo Faber |
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| Rok vydání: | 2002 |
| Předmět: |
Male
medicine.medical_specialty Down syndrome Dizygotic twin medicine.medical_treatment Population Aneuploidy Biology Intracytoplasmic sperm injection Twins Dizygotic medicine Humans Abnormalities Multiple Sperm Injections Intracytoplasmic Advanced maternal age education Genetics education.field_of_study Obstetrics Rehabilitation Infant Newborn Obstetrics and Gynecology medicine.disease Reproductive Medicine Down Syndrome Chromosome 21 Trisomy |
| Zdroj: | Human Reproduction. 17:912-915 |
| ISSN: | 1460-2350 |
| DOI: | 10.1093/humrep/17.4.912 |
| Popis: | We report on a pair of dizygotic twin boys born after ICSI. One twin was affected with maternal meiosis I-derived free trisomy 21. The other had multiple congenital malformations including a complex heart defect and oesophageal atresia. The advanced maternal age of 37 years predisposed for chromosome 21 meiosis I non-disjunction in twin A. Each of the multiple congenital anomalies in twin B has been described in trisomy 21. However, due to dizygosity demonstrated by a panel of molecular markers mapped on chromosome 21 as well as the results of investigations with 16 short tandem repeat markers localized on various other chromosomes, low level mosaicism or chimerism for this aneuploidy in twin B is unlikely. In addition, the twinning process, which by itself is associated with an increased rate of congenital malformations particularly affecting heart and oesophagus, might be responsible for the multiple congenital anomalies in twin B. Thus, in agreement with the results of several population-based studies from the literature, it appears unlikely that the micromanipulation of ICSI is causally responsible for the different anomalies found in these two boys. |
| Databáze: | OpenAIRE |
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