New anomalies found in the 11q‐ syndrome

L. Sirota, F. Shabtai, I. Landman, I. Halbrecht, F. Dulitzky

Research output: Contribution to journalArticlepeer-review

Abstract

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23‐q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 1 lq‐, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.

Original languageEnglish
Pages (from-to)569-573
Number of pages5
JournalClinical Genetics
Volume26
Issue number6
DOIs
StatePublished - Dec 1984

Keywords

  • 11q‐
  • Atrial septal defect
  • hydrocephalus
  • trigonocephaly
  • urogenital system
  • ventricular septal defect

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