منابع مشابه
Double trisomy 48,XXX,+18 with multiple dysmorphic features.
BACKGROUND Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. METHODS Case report and literature review. RESULTS A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small f...
متن کاملDouble Aneuploidy: Trisomy 18 and XXY in a Boy
The simultaneous occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. Most of the previously reported cases of double trisomy were found in spontaneous abortions. We report on a male newborn presenting with typical clinical features of Edwards syndrome (trisomy 18), resulting from de novo, non-mosaic 18 trisomy with an additional X in the karyotype: 48, XXY, +...
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 ...
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 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 ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1974
ISSN: 1468-6244
DOI: 10.1136/jmg.11.3.309