Infant with multiple congenital anomalies and deletion (9)(q34.3)

L. A. Schimmenti, S. A. Berry, M. Tuchman, B. Hirsch

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down- slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3

Original languageEnglish (US)
Pages (from-to)140-142
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume51
Issue number2
DOIs
StatePublished - May 31 1994

Keywords

  • chromosome 9
  • chromosome deletion
  • developmental delay
  • multiple congenital malformation
  • partial monosomy 9q

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