Edwards syndrome with double trisomy

Edwards syndrome with double trisomy

Double trisomy is rare and the only case reported in the literature died soon after birth. We present another case of double trisomy (48XYY, +18) in a male neonate, who was born to a 28-year-old gravida three parity one mother at 35 weeks of gestation. The baby had features of trisomy 18. Karyotype...

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Veröffentlicht in:Singapore medical journal 2008-07, Vol.49 (7), p.e190
Hauptverfasser: Tennakoon, J, Kandasamy, Y, Alcock, G, Koh, T H
Format: Artikel
Sprache:eng
Schlagworte:
Chromosome Aberrations
Chromosomes, Human, Pair 18
Chromosomes, Human, Y
Fatal Outcome
Female
Humans
Infant, Newborn
Karyotyping
Male
Syndrome
Trisomy
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Beschreibung
Zusammenfassung:Double trisomy is rare and the only case reported in the literature died soon after birth. We present another case of double trisomy (48XYY, +18) in a male neonate, who was born to a 28-year-old gravida three parity one mother at 35 weeks of gestation. The baby had features of trisomy 18. Karyotype of the patient showed 48, XYY, +18, Ish (DYZ3*2), (D18Z1*3), nuc ish (DYZ3*2), (D18Z1*3) . The patient had clinical features of trisomy 18. There was no family history of diabetes mellitus and no exposure to chemicals. It has been suggested that the rarity of Y-chromosome involvement in trisomy 18 may be due to discrepancy between the sexes.
ISSN:0037-5675