RESUMEN
To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients.
Asunto(s)
Cromosomas Humanos Y/genética , Disgenesia Gonadal Mixta/genética , Cariotipificación , Mosaicismo , Aberraciones Cromosómicas Sexuales , Proteína de la Región Y Determinante del Sexo/genética , Adolescente , Bandeo Cromosómico , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal Mixta/diagnóstico , Humanos , Hibridación Fluorescente in Situ , Masculino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genéticaAsunto(s)
Pie Equinovaro/diagnóstico , Pulgar/anomalías , Anomalías Múltiples/diagnóstico , Humanos , Lactante , MasculinoRESUMEN
An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-banding and FISH. Examination of the genitalia revealed a phallus measuring 1.5 cm in length and 0.5 cm wide with perineal orifice. Subtle phenotypic features consistent with Turner syndrome were not present. Genital ultrasonography revealed the presence of an infantile uterus. Endoscopy of the vagina, uterus and cervix appeared normal.
Asunto(s)
Genitales Femeninos/anatomía & histología , Aberraciones Cromosómicas Sexuales/genética , Adolescente , Adulto , Bandeo Cromosómico , Clítoris/cirugía , Consanguinidad , Femenino , Genitales Femeninos/diagnóstico por imagen , Hernia Inguinal/cirugía , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipificación , Masculino , Ultrasonografía , Cromosoma X , Cromosoma YRESUMEN
Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.
Asunto(s)
Anomalías Múltiples/genética , Deformidades Congénitas del Pie/genética , Genes Recesivos , Pulgar/anomalías , Adulto , Preescolar , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Consanguinidad , Cara/anomalías , Femenino , Humanos , Hipertelorismo/genética , Lactante , Recién Nacido , Masculino , Embarazo , Trastornos Psicomotores/genética , TurquíaRESUMEN
Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.