RESUMO
We report on a young male with mental retardation, slightly upslanting palpebral fissures, strabismus, high-arched palate, retrognathia, and flat feet. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 10p11.2-->p12.2 duplication. Karyotypes of the parents were normal. Comparison of the clinical findings observed in the present patient with those observed in other reported cases with duplication 10p suggest that the presence of high arched/cleft palate and retrognathia may be related to the 10p11.2-->p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 10/genética , Anormalidades Múltiplas/patologia , Adulto , Bandeamento Cromossômico , Pé Chato , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual , Cariotipagem , Masculino , Palato/anormalidades , RetrognatismoAssuntos
Cromossomos Humanos Par 7/genética , Proteínas do Tecido Nervoso , Proteínas Nucleares , Proteínas Repressoras , Fatores de Transcrição/genética , Trissomia , Proteínas de Xenopus , Adulto , Aberrações Cromossômicas , Cromossomos Humanos Par 8/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Proteínas de Homeodomínio , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/patologia , Cariotipagem , Fatores de Transcrição Kruppel-Like , Masculino , Transativadores/genética , Proteína 1 Relacionada a Twist , Proteína Gli3 com Dedos de ZincoRESUMO
The authors describe a boy with a triangular face, wide forehead, telecanthus, large ears, prominent root of the nose, long and bulging philtrum, thin upper lip, everted lower lip, high arched palate, micrognathism, pointed chin, overriding toes, joint laxity, and mild mental retardation. Cytogenetic investigation disclosed the presence of an added chromosome, a very small acrocentric, consisting in the presence of the last band of the short arm of chromosome 17. This anomaly results from a 3:1 mal segregation of a balanced (13q17p) reciprocal maternal translocation leading to a trisomy 17pter. This is a previously undescribed chromosome anomaly.
