Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome.
نویسندگان
چکیده
منابع مشابه
Monozygotic twins with trisomy 18: a report of discordant phenotype.
The predicted incidence of liveborn monozygotic trisomy 18 twins is one per million births. The first case of liveborn monozygotic trisomy 18 twins was reported in 1989 and we report a second case in which striking phenotypic discordance existed. The probability of monozygotic trisomy 18 twinning and the mechanisms for phenotypic discordance in trisomic twins is discussed.
متن کاملCebocephaly in an infant with trisomy 18.
An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.
متن کاملTrisomy 18 in Kuwait.
BACKGROUND Trisomy 18 (Edwards' syndrome, T18) is the second most common trisomy in man. We describe 118 children with regular T18 who were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre during 1980-1997. METHODS Ascertainment of T18 cases was performed shortly after birth. Chromosomal studies were carried out in addition to other relevant investigations. To ...
متن کاملRing chromosome 18 in a patient with multiple anomalies.
Ring chromosomes, long of interest in cytogenetics, have been intensively studied in corn and Drosophila (McClintock, 1932, 1938; Morgan, 1933; Battacharya, 1950) and also described in Crepis, Tulipa, Tradescantia, and other species. In the past few years, a number of reports of ring chromosomes in man have appeared (Table I). We recently encountered a mentally retarded patient with multiple co...
متن کاملThe trisomy 18 syndrome
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1984
ISSN: 1468-6244
DOI: 10.1136/jmg.21.2.151