Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

AUTOR(ES)

Smith, N M

RESUMO

We report the findings in a fetus terminated because of multiple abnormalities diagnosed on ultrasound, including asymmetry of the limbs, a hypoplastic diaphragm, unilateral duplex kidney with a double ureter, unilateral cystic kidney, and congenital heart disease including total pulmonary atresia. Cytogenetic studies showed an unbalanced translocation of the long arm of the X chromosome to chromosome 21, resulting in a 46,XY,dic t(X;21)(p11.1;p11.1) karyotype. The cytogenetics were confirmed by non-isotopic in situ hybridisation using probes specific to pericentric alphoid repeats. Parental chromosomes were normal indicating this to be a de novo translocation. It is suggested that the inactivation of the long arm of the X chromosome has resulted in an effective monosomy for chromosome 21.

Documentos Relacionados

• 45,X/46,XY/47,XY, +21 mosaicism in a hypogonadal phenotypic male.
• Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females.
• De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
• 46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.
• Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas