Edwards' Syndrome (Trisomy 18)
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چکیده
The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a segment of chromosome 18 is present in triplicate, usually due to a balanced translocation carried by one parent.
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Trisomy 18 (Edwards Syndrome)
John Hilton Edwards [7] first described the symptoms of the genetic disorder known as Trisomy 18?one of the most common forms of human trisomy, which occurs when cells have an extra copy of a chromosome, in 1960. Trisomy 18 [5], also known as Edwards Syndrome [6], occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down?s Syndrome, as an autosomal tr...
متن کاملPhenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)
PATIENT Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - MEDICATION - Clinical Procedure: - Specialty: Otolaryngology. OBJECTIVE Congenital defects. BACKGROUND Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertion...
متن کاملEdwards' Syndrome (Trisomy 18)
The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a...
متن کامل[Double aneuploidy: Klinefelter and Edwards syndromes (48,XXY,+18). Case report].
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndro...
متن کاملAnkyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome.
Three cases of ankyloblepharon filiforme adnatum (AFA) in infants with Edwards syndrome are described. The case for a fifth subgroup of AFA is reinforced.
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