A Case of Supernumerary Derivative (22) Syndrome Resulting from a Paternal Balanced Translocation
Journal of the Korean Society of Neonatology
;
: 127-131, 2010.
Artigo
em Coreano
| WPRIM
| ID: wpr-223416
ABSTRACT
Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 31 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 31 meiotic segregation of the paternal translocation carrier.
Texto completo:
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Palato
/
Pais
/
Anormalidades Congênitas
/
Trissomia
/
Cromossomos Humanos Par 11
/
Cromossomos Humanos Par 22
/
Orelha
/
Insuficiência de Crescimento
/
Coração
/
Rim
Limite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2010
Tipo de documento:
Artigo
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