Abstract | CONTEXT: 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.
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Authors | Eduardo 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 |
Journal | European journal of endocrinology
(Eur J Endocrinol)
Vol. 160
Issue 4
Pg. 711-7
(Apr 2009)
ISSN: 1479-683X [Electronic] England |
PMID | 19332529
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Chromogranins
- Genetic Markers
- GNAS protein, human
- GTP-Binding Protein alpha Subunits, Gs
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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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