Phenotypic correlations in a patient with ring chromosome 22.
Indian J Hum Genet
;
2010 May; 16(2): 97-99
Artigo
em Inglês
| IMSEAR
| ID: sea-138906
ABSTRACT
Ring chromosome 22, a rare cytogenetic anomaly, has been described in over 60 cases in the medical literature. The aim of this report was to present a case carrying ring chromosome 22, and her family. It is a case report of a patient presented at Medical Faculty of Çukurova University in Turkey. An 8-year-old girl with ring chromosome 22 and her family were evaluated cytogenetically and clinically. A chromosome analysis of the proband revealed a de novo 46, XX, r(22)(p11.2;q13) karyotype. Our subject demonstrated the prominent features of this syndrome including profound mental retardation, language impairment, dysmorphic features, lack of speech, hyperactivity, and behavioral disorders. There is lack of consistency between the physical abnormalities that we observed in our subject and those observed for such patients in the literature. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Pais
/
Fenótipo
/
Cromossomos em Anel
/
Turquia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 22
/
Feminino
/
Humanos
/
Criança
/
Deleção Cromossômica
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2010
Tipo de documento:
Artigo
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