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

E. Morava; G. Kosztolányi

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

Medical Genetics

Research output: Contribution to journal › Article › peer-review

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 contribution	Alpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex
Original language	Hungarian
Pages (from-to)	2799-2801
Number of pages	3
Journal	Orvosi hetilap
Volume	137
Issue number	50
State	Published - Dec 15 1996

ASJC Scopus subject areas

General Medicine

Cite this

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title = "Alfa-thalassaemia/ment{\'a}lis retardatio syndroma--egy {\'u}j, X kromosz{\'o}m{\'a}hoz k{\"o}t{\"o}tt, recessz{\'i}v {\"o}r{\"o}kl{\"o}d{\'e}s{\"u} t{\"u}netegy{\"u}ttes.",

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.",

author = "E. Morava and G. Kosztol{\'a}nyi",

year = "1996",

month = dec,

day = "15",

language = "Hungarian",

volume = "137",

pages = "2799--2801",

journal = "Orvosi hetilap",

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T1 - Alfa-thalassaemia/mentális retardatio syndroma--egy új, X kromoszómához kötött, recesszív öröklödésü tünetegyüttes.

AU - Morava, E.

AU - Kosztolányi, G.

PY - 1996/12/15

Y1 - 1996/12/15

N2 - 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.

AB - 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.

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AN - SCOPUS:0030589214

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

Abstract

ASJC Scopus subject areas

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