De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies
β Scribed by Yoshiharu Wakita; Kouji Narahara; Kazushiro Tsuji; Yuji Yokoyama; Shinsuke Ninomiya; Ryuko Murakami; Kiyoshi Kikkawa; Yoshiki Seino
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 471 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A de novo and apparently balanced complex chromosome rearrangement (CCR) was found in monozygotic (MZ) twin infants with multiple congenital anomalies. The rearrangement involved 4 chromosomes with 6 breakpoints including 2p23, 2q13, 2q21.1, 3p23, 11q13.1, and 12q24.1. This seems to be the first report of a CCR in MZ twins. The relationship between this chromosome abnormality and MZ twinning is discussed.
π SIMILAR VOLUMES
W e describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)I who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and di
## Abstract We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CTβproven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. U