RESUMO
We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X-linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed.
Assuntos
Alopecia/genética , Displasia Ectodérmica/genética , Ictiose Ligada ao Cromossomo X/genética , Pré-Escolar , Displasia Ectodérmica/patologia , Genes Recessivos , Ligação Genética , Humanos , Ictiose Ligada ao Cromossomo X/patologia , Deficiência Intelectual/genética , Luz , Masculino , Linhagem , Síndrome , Cromossomo XRESUMO
An infant with normal male external genitalia and preoperative diagnosis of right hydrocele and left cryptorchidism got operative diagnosis of true hermaphroditism. Left ovary and Fallopian tube were removed. Karyotype was 46.XX/47.XXY. The results of the genetic study are shown.
Assuntos
Transtornos do Desenvolvimento Sexual , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Feminino , Humanos , Lactente , MosaicismoRESUMO
The results of an epidemiological survey on Huntington's disease in the Lazio Region, Central Italy, and of linkage studies in a subset of families are reported. From a total of 99 ascertained families and 491 patients, a prevalence of 25.6 X 10(-6) was obtained, with distributions of age at onset and age at death similar to those described in the literature. No relationship with the sex of the transmitting parent was observed. Analysis of 10 chromosome 4 restriction fragment length polymorphisms in 11 families showed consistent linkage between the genetic loci D4S10, D4S43 and D4S95, and the disease. A recombination rate of 0.08 for D4S10 markers was obtained in this sample. Allelic frequencies of DNA markers in the general population are also reported.