Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q.

J. Yu, Jing-Ming Wu, S. J. Lin, C. C. Tzeng

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

A term female newborn with partial trisomy 13q [46,XX, -18, +der(18) t(13;18) (13qter-->13q22:: 18q23--> 18pter) pat], is described with unbalanced translocation and isolated absence of the pulmonary valve. The clinical manifestations included hypertelorism, corneal opacification, high arch palate, rocker-bottom feet, polydactyly (both hands and feet), respiratory distress and intractable congestive heart failure. Echocardiogram showed isolated absent pulmonary valve. This consents report such a combination in partial chromosome 13 trisomy.

Original languageEnglish
Pages (from-to)214-216
Number of pages3
JournalZhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
Volume36
Issue number3
Publication statusPublished - 1995 Jan 1

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Pulmonary Valve
Trisomy
Hypertelorism
Polydactyly
Chromosomes, Human, Pair 13
Palate
Foot
Heart Failure
Hand
Chromosome 13q trisomy
Congenital Vertical talus

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

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abstract = "A term female newborn with partial trisomy 13q [46,XX, -18, +der(18) t(13;18) (13qter-->13q22:: 18q23--> 18pter) pat], is described with unbalanced translocation and isolated absence of the pulmonary valve. The clinical manifestations included hypertelorism, corneal opacification, high arch palate, rocker-bottom feet, polydactyly (both hands and feet), respiratory distress and intractable congestive heart failure. Echocardiogram showed isolated absent pulmonary valve. This consents report such a combination in partial chromosome 13 trisomy.",
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Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q. / Yu, J.; Wu, Jing-Ming; Lin, S. J.; Tzeng, C. C.

In: Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui, Vol. 36, No. 3, 01.01.1995, p. 214-216.

Research output: Contribution to journalArticle

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T1 - Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q.

AU - Yu, J.

AU - Wu, Jing-Ming

AU - Lin, S. J.

AU - Tzeng, C. C.

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