RESUMO
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.
Assuntos
Cromossomos Humanos Y/genética , Disgenesia Gonadal Mista/genética , Cariotipagem , Mosaicismo , Aberrações dos Cromossomos Sexuais , Proteína da Região Y Determinante do Sexo/genética , Adolescente , Bandeamento Cromossômico , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal Mista/diagnóstico , Humanos , Hibridização in Situ Fluorescente , Masculino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genéticaAssuntos
Cromossomos Humanos Par 6/genética , Aconselhamento Genético , Heterocromatina/genética , Infertilidade Masculina/genética , Polimorfismo Genético/genética , Adulto , Centrômero/genética , Bandeamento Cromossômico , Humanos , Masculino , Oligospermia/diagnóstico , Oligospermia/genética , FenótipoRESUMO
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.
Assuntos
Genitália Feminina/anatomia & histologia , Aberrações dos Cromossomos Sexuais/genética , Adolescente , Adulto , Bandeamento Cromossômico , Clitóris/cirurgia , Consanguinidade , Feminino , Genitália Feminina/diagnóstico por imagem , Hérnia Inguinal/cirurgia , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , Masculino , Ultrassonografia , Cromossomo X , Cromossomo YRESUMO
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.
Assuntos
Anormalidades Múltiplas/genética , Deformidades Congênitas do Pé/genética , Genes Recessivos , Polegar/anormalidades , Adulto , Pré-Escolar , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Consanguinidade , Face/anormalidades , Feminino , Humanos , Hipertelorismo/genética , Lactente , Recém-Nascido , Masculino , Gravidez , Transtornos Psicomotores/genética , TurquiaRESUMO
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.