Chromosome analysis by Q, R, and C banding was performed in a case diagnosed clinically as gonadal dysgenesis and the karyotype was shown to be 46,X,Xt(qter--p221: :p223--qter). Localisation of the breakpoints in the fused X chromosomes and replication studies have led to a hypothesis on the origin of the translocation. A comparison of clinical and cytogenetical findings in this and other published cases has also been made in an attempt to detect some phenotype/karyotype correlations.
Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter--p221 ::p223--qter) karyotype: review and phenotype/karyotype correlations / Ferraro, Marina; DE CAPOA, Adriana; Mostacci, C.; Pelliccia, Franca; Zulli, P.; Baldini, M. A.; DE NISIO, Q.. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - STAMPA. - 17:(1980), pp. 457-463. [10.1136/jmg.17.6.457]
Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter--p221 ::p223--qter) karyotype: review and phenotype/karyotype correlations.
FERRARO, Marina;DE CAPOA, Adriana;PELLICCIA, Franca;
1980
Abstract
Chromosome analysis by Q, R, and C banding was performed in a case diagnosed clinically as gonadal dysgenesis and the karyotype was shown to be 46,X,Xt(qter--p221: :p223--qter). Localisation of the breakpoints in the fused X chromosomes and replication studies have led to a hypothesis on the origin of the translocation. A comparison of clinical and cytogenetical findings in this and other published cases has also been made in an attempt to detect some phenotype/karyotype correlations.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
