RESUMO
A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans.
Assuntos
Deleção de Genes , Proteínas Nucleares , Aberrações dos Cromossomos Sexuais/genética , Fatores de Transcrição , Adulto , Sequência de Bases , DNA de Cadeia Simples , Proteínas de Ligação a DNA/genética , Feminino , Disgenesia Gonadal/genética , Disgenesia Gonadal/patologia , Humanos , Cariotipagem , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Diferenciação Sexual/genética , Proteína da Região Y Determinante do Sexo , Síndrome de Turner/genéticaRESUMO
This paper describes the unexpected transmission of a translocation (22;22)(p13;q11) from a mother to her phenotypically normal daughter (the proband). Both women had had multiple abortions. No signs of mosaicism with respect to chromosome No. 22 were found in the proband or in her mother. Until now, it has been generally assumed that carriers of a 22/22 translocation will have only abnormal conceptuses. The transmission of this translocation from a balanced carrier to a phenotypically normal daughter was therefore highly unexpected and is not easy to explain. Early postzygotic loss of a chromosome no. 22 from a trisomic zygote, or fertilization of an oocyte carrying the translocation by a sperm nullisomic for chromosome no. 22 could have led to the balanced chromosome pattern of the proband.
Assuntos
Aborto Habitual/genética , Cromossomos Humanos 21-22 e Y , Translocação Genética , Adulto , Bandeamento Cromossômico , Feminino , Heterozigoto , Humanos , Linhagem , GravidezRESUMO
This report concerns a trisomy 4p in a mentally retarded girl with multiple congenital anomalies. A translocation between chromsomes Nos. 4 and 15 was discovered in three generations of the patient's pedigree.
