title: [Diploid/triploid mosaicism: a variable but characteristic phenotype].
abstract: BACKGROUND
  Diploid/triploid mosaicism is a rare chromosomal abnormality. It is caused by a failure in the postzygotic division during embryonic development. It results in the coexistence of two genetically heterogeneous cell lines (46,XX and 69,XXX) in one individual. His clinical phenotype is characteristic. Pigmentary changes with a distribution pattern following Blaschko's lines abnormalities in other ectoderm-derived tissues are the main diagnostic signs.
  
  
  METHODS
  Three cases of diploid/triploid mosaicism are described, and compared to the previously reported cases. The most frequently observed symptoms were mental retardation, truncal obesity, short stature, hemihypertrophy, small and narrow hands with clino and camptodactyly. Phenotypic characteristics of our three patients were similar to those of previously reported cases. Although there is no single and specific phenotype associated with mosaicism diploid/triploid, there are some dysmorphic features that shape a recognizable malformative syndrome. Peripheral blood lymphocytes karyotype was normal in our patients. Diagnosis was reached performing a fibroblast karyotype from hypopigmented skin.
  
  
  CONCLUSIONS
  Intellectual disability associated with truncal obesity, short stature, hemihypertrophy or clino/camptodactyly should suggest to clinicians the possible existence of a diploid/triploid mosaicism. In most cases, karyotype from fibroblasts is needed to reach the diagnosis.
authors: Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana.
authors: Daniel
authors: D
authors: Natera-De Benito
authors: Pilar
authors: P
authors: Poo
authors: Esther
authors: E
authors: Gean
authors: Asunción
authors: A
authors: Vicente-Villa
authors: Angels
authors: A
authors: García-Cazorla
authors: M Carmen
authors: MC
authors: Fons-Estupiña
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000235:genetics*; D000026:Abortion, Habitual / Q000235:genetics; D004832:Epilepsy, Absence / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology; D005347:Fibroblasts / Q000648:ultrastructure; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008607:Intellectual Disability / Q000235:genetics; D008214:Lymphocytes / Q000648:ultrastructure; D009030:Mosaicism; D056128:Obesity, Abdominal / Q000235:genetics; D010641:Phenotype; D012189:Retrospective Studies; D013576:Syndactyly / Q000235:genetics; D057885:Triploidy