Assuntos
Acrocefalossindactilia/genética , Proteínas Nucleares , Fatores de Transcrição/genética , Acrocefalossindactilia/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Proteína 1 Relacionada a TwistRESUMO
We report on two patients with mosaic tetrasomy of 8p[46,XY/47,XY,+i(8p)], a previously unreported cytogenetic anomaly. The first patient had a low percentage of tetrasomic (secondary trisomic) cells in lymphocytes and fibroblasts, an only mildly abnormal phenotype, and a rather benign clinical course. The second patient had a considerably larger percentage of tetrasomic cells in lymphocytes and fibroblasts, and had more severe congenital anomalies that led to his death at 8 months. A characteristic phenotype +i(8p) is suggested but not yet established. The manifestations of these two patients resemble those of mosaic trisomy 8 and mosaic trisomy 8p, with rib and vertebral abnormalities, absent corpus callosum, and enlarged cerebral ventricles.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 8 , Trissomia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Encéfalo/anormalidades , Criança , Aberrações Cromossômicas/patologia , Bandeamento Cromossômico , Transtornos Cromossômicos , Dermatoglifia , Humanos , Lactente , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Mosaicismo , FenótipoRESUMO
ACS was highly variable in this family. At least one affected member could have passed as uninvolved. Others could have been assigned to ACS types III, IV or V. The current classification is probably sound, but great caution is needed to assign individual cases of ACS to any group other than ACS types I or II or the Carpenter syndrome. The great variability of ACS has obvious implications for genetic counseling.
