Partial trisomy 13 [46,XY,dup(13)(q14-31)]: a case report.

C. Y. Ou*, T. Y. Hsu, J. C. Chang, S. Y. Chang

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

2 Scopus citations

Abstract

We report a fetus with partial trisomy 13 [46,XY,dup(13)(q14-31)] which was found during an amniocentesis performed due to the age of the mother. This duplication segment (13q 14-31) has not been reported in literature. The clinical features of our patient included cleft lip/palate, low set ears, depressed nasal bridge, hypertelorism, and epicanthal fold. After termination of the pregnancy, the fetus was sent for an autopsy. The autopsy report was compatible with the gross findings and no other abnormalities, including central nervous, cardiac, and renal system, were found. The level of maternal alpha-fetoprotein, 2.67 MoM, was opposite with the common phenomenon in complete trisomy 13.

Original languageEnglish
Pages (from-to)82-85
Number of pages4
JournalChang Gung Medical Journal
Volume21
Issue number1
StatePublished - 03 1998
Externally publishedYes

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