Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22

Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22

There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22. Although such a manifest...

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Veröffentlicht in:Acta medica Iranica 2015-12, Vol.53 (12), p.782-784
Hauptverfasser: Mosallanejad, Asieh, Sayarifard, Fatemeh, Hosseinverdi, Sima, Abbasi, Farzaneh, Shabni Mirzaee, Hosein, Rezaei, Nima
Format: Artikel
Sprache:eng
Schlagworte:
Cat eye syndrome
Child
Chromosomes, Human, Pair 22 - genetics
Coloboma - diagnosis
Coloboma - genetics
Congenital heart defects
Ear - abnormalities
Exophthalmos - diagnosis
Exophthalmos - genetics
Female
Humans
Karyotyping
Micrognathism - diagnosis
Micrognathism - genetics
Ocular coloboma
Phenotype
Syndrome
Vaginal neuroma
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Zusammenfassung:There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22. Although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestation of the disease.
ISSN:0044-6025
1735-9694