Alfa-thalassaemia/mentális retardatio syndroma--egy új, X kromoszómához kötött, recesszív öröklödésü tünetegyüttes.

Translated title of the contribution: Alpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex

E. Morava, G. Kosztolányi

Research output: Contribution to journalArticle

Abstract

Two brothers are presented who were previously diagnosed to have atypical Smith-Lemli-Opitz syndrome. On repeated examinations, however, the facial anomalies of the patients suggested that they would have rather alpha-thalassaemia/mental retardation syndrome. The presence of hemoglobin H inclusions in the peripheral red blood cell supported the clinical suspicion. The search for hemoglobin H inclusions should be considered as a screening test when evaluating mentally retarded boys.

Translated title of the contributionAlpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex
Original languageHungarian
Pages (from-to)2799-2801
Number of pages3
JournalOrvosi hetilap
Volume137
Issue number50
StatePublished - Dec 15 1996

ASJC Scopus subject areas

  • Medicine(all)

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