Literature DB >> 8014976

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

R Ogle1, M DeSouza, C Cunningham, B Kerr, D Sillence.   

Abstract

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X.

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Year:  1994        PMID： 8014976      PMCID： PMC1049752          DOI： 10.1136/jmg.31.3.245

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

Review 1.  Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

Authors:  M P Harvey; A Kearney; A Smith; R J Trent
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  The Human Genome Project: where did it come from, where is it going?

Authors:  E Jordan
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

3.  The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.

Authors:  A O Wilkie; M E Pembrey; R J Gibbons; D R Higgs; M E Porteous; J Burn; R M Winter
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

4.  X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Authors:  A O Wilkie; R J Gibbons; D R Higgs; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

5.  The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.

Authors:  D Donnai; J Clayton-Smith; R J Gibbons; D R Higgs
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

Review 6.  A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

Authors:  R J Gibbons; A O Wilkie; D J Weatherall; D R Higgs
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

7.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Authors:  A O Wilkie; V J Buckle; P C Harris; J Lamb; N J Barton; S T Reeders; R H Lindenbaum; R D Nicholls; M Barrow; N C Bethlenfalvay
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

8.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

Authors:  A O Wilkie; H C Zeitlin; R H Lindenbaum; V J Buckle; N Fischel-Ghodsian; D H Chui; D Gardner-Medwin; M H MacGillivray; D J Weatherall; D R Higgs
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

9.  Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.

Authors:  T R Cole; A May; H E Hughes
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

10.  Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

Authors:  D J Weatherall; D R Higgs; C Bunch; J M Old; D M Hunt; L Pressley; J B Clegg; N C Bethlenfalvay; S Sjolin; R D Koler; E Magenis; J L Francis; D Bebbington
Journal:  N Engl J Med       Date:  1981-09-10       Impact factor: 91.245
  10 in total

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