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Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.

AbstractCONTEXT:
The phenotypic variability of patients with syndromes presenting with dysmorphism makes clinical diagnosis difficult, leading to an exhaustive genetic study to determine the underlying mechanism so that a proper diagnosis could be established.
OBJECTIVE:
To genetically characterize siblings, the older sister diagnosed with Albright hereditary osteodystrophy and the younger one with CHARGE syndrome.
DESIGN:
Clinical case report.
METHODS:
Clinical, biochemical, and radiological studies were performed on the family. In addition, molecular genetic studies including sequencing of GNAS, typing of microsatellites on 2q and 21q, and multiplex ligation-dependent probe amplification of subtelomeric regions were performed, as well as confirmatory fluorescent in situ hybridization analysis.
RESULTS:
The genetic analysis revealed that both sisters presented a 2q37 deletion due to the maternal unbalanced segregation of a 2;21 translocation.
CONCLUSIONS:
This is the first report of a 2q37 deletion where differential diagnosis of CHARGE syndrome is needed due to the appearance of choanal atresia.
AuthorsEduardo Fernández-Rebollo, Olga Pérez, Cristina Martinez-Bouzas, Maria Carmen Cotarelo-Pérez, Intza Garin, Jose Luis Ruibal, Gustavo Pérez-Nanclares, Luis Castaño, Guiomar Pérez de Nanclares
JournalEuropean journal of endocrinology (Eur J Endocrinol) Vol. 160 Issue 4 Pg. 711-7 (Apr 2009) ISSN: 1479-683X [Electronic] England
PMID19332529 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Chromogranins
  • Genetic Markers
  • GNAS protein, human
  • GTP-Binding Protein alpha Subunits, Gs
Topics
  • Abnormalities, Multiple (diagnosis, genetics)
  • Adolescent
  • Body Weight (physiology)
  • Choanal Atresia (diagnosis, genetics)
  • Chromogranins
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2 (genetics)
  • Diagnosis, Differential
  • Female
  • GTP-Binding Protein alpha Subunits, Gs (genetics)
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Obesity (genetics)
  • Phenotype
  • Syndrome
  • Translocation, Genetic (genetics, physiology)

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