Literature DB >> 3953650

Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes.

F A Beemer, H Veenema, J M de Pater.   

Abstract

Two boys were studied who had a large size at birth and/or overgrowth, unusual length, large head circumference and minor anomalies, mainly facial. Their mental development appeared mildly retarded. A clinical diagnosis of cerebral gigantism (Sotos syndrome) was made. However, subsequent chromosome studies (medium 199, with 5% fetal calf serum) showed fra(X) (q27) in 4 and 6% of cells, respectively. These observations give evidence for genetic heterogeneity in cerebral gigantism. Fra(X) studies are recommended in all cases of cerebral gigantism (Sotos syndrome).

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Year:  1986        PMID： 3953650     DOI： 10.1002/ajmg.1320230117

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Sotos syndrome.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  No evidence for uniparental disomy as a common cause of Sotos syndrome.

Authors:  M Smith; P Fullwood; Y Qi; S Palmer; M Upadhyaya; T Cole
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

3.  Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects.

Authors:  M G Butler; P F Dijkstra; F J Meaney; D D Gale
Journal:  Am J Med Genet       Date:  1988-01

4.  General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

Authors:  B B de Vries; H Robinson; I Stolte-Dijkstra; C V Tjon Pian Gi; P F Dijkstra; J van Doorn; D J Halley; B A Oostra; G Turner; M F Niermeijer
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

5.  Metacarpophalangeal pattern profile analysis in fragile X syndrome.

Authors:  M G Butler; M Fletcher; D D Gale; F J Meaney; D R McLeod; J Fagan; N J Carpenter
Journal:  Am J Med Genet       Date:  1988-12

Review 6.  The fragile X syndrome.

Authors:  B B de Vries; D J Halley; B A Oostra; M F Niermeijer
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

7.  Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature.

Authors:  Chariyawan Charalsawadi; Juthamas Wirojanan; Somchit Jaruratanasirikul; Nichara Ruangdaraganon; Alan Geater; Pornprot Limprasert
Journal:  Int J Pediatr       Date:  2017-06-29
  7 in total

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