Cystic dilation of the aqueductus Sylvii in case of trisomy 17p11.2 - pter with the deletion of the terminal portion of the chromosome 6

Emese Horváth, János Sikovanyecz, A. Pál, László Kaiser, Bálint L. Bálint, Póliska Szilárd, Zoltán Kozinszky, János Szabó

Research output: Contribution to journalArticle

Abstract

Since the 1970s, about 30 cases of partial or complete trisomy 17p have been presented in the literature. Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these cases were described in infants and newborns; and to our knowledge only 3 cases of trisomy 17p have been detected intrauterine. Phenotypic features of trisomy 17p in fetuses are intrauterine growth retardation, ventriculomegaly, cleft lip and cleft palate, micrognathia, horseshoe kidneys, single umbilical artery, and congenital heart defects. The sonographic and foetopathologic findings of a pregnancy trisomy 17p11.2 - pter with the deletion of the terminal portion of the chromosome 6 due to paternal balanced translocation are described in this case report.

Original languageEnglish
Article number354170
JournalCase Reports in Medicine
Volume2010
DOIs
Publication statusPublished - Jan 1 2010

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Chromosomes, Human, Pair 6
Trisomy
Dilatation
Micrognathism
Single Umbilical Artery
Chromosomes, Human, Pair 17
Fetal Growth Retardation
Congenital Heart Defects
Cleft Lip
Cleft Palate
Fetus
Newborn Infant
Pregnancy
Trisomy 17p Chromosome 17

ASJC Scopus subject areas

  • Medicine(all)

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Cystic dilation of the aqueductus Sylvii in case of trisomy 17p11.2 - pter with the deletion of the terminal portion of the chromosome 6. / Horváth, Emese; Sikovanyecz, János; Pál, A.; Kaiser, László; Bálint, Bálint L.; Szilárd, Póliska; Kozinszky, Zoltán; Szabó, János.

In: Case Reports in Medicine, Vol. 2010, 354170, 01.01.2010.

Research output: Contribution to journalArticle

Horváth, Emese ; Sikovanyecz, János ; Pál, A. ; Kaiser, László ; Bálint, Bálint L. ; Szilárd, Póliska ; Kozinszky, Zoltán ; Szabó, János. / Cystic dilation of the aqueductus Sylvii in case of trisomy 17p11.2 - pter with the deletion of the terminal portion of the chromosome 6. In: Case Reports in Medicine. 2010 ; Vol. 2010.
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AU - Kaiser, László

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AU - Szilárd, Póliska

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