Biomedical subjects

M Doussau de Bazignan

Publications and source records attributed to M Doussau de Bazignan.

4 recordsLinked to original sources

PubMed1986

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed.

Chromosome Banding↗

PubMed1985

Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.

A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms. This observation is compatible with the regional assignment of the incontinentia pigmenti locus to the juxta-centromeric region of the X, the r(X) being of very small size.

Adult↗

PubMed1985

Embryonic testicular regression syndrome and severe mental retardation in sibs.

The embryonic testicular regression syndrome associated with severe mental retardation is reported in three 46,XY sibs each of whom has a 46,XY chromosome complement. A fourth sib, a sister, also is severely retarded mentally; her chromosome complement is 46,XX. The 46,XY individuals, who were raised as females, presented varying degrees of genital ambiguity, indicating that their gonadal activities had been arrested at different times during embryogenesis. No trace of gonadal tissue could be found in either patient. The coincidence of the embryonic testicular regression syndrome and severe mental retardation in the same sibship is discussed.

Adult↗

PubMed1976

[Trisomy 10 p. A previously reported case explained by binding].

A previously reported male infant having died at 4 months, was considered trisomic Cp, his mother being carrier of balanced translocation t(Cp-;Bq +). Reexamination of the chromosome complement after R-banding showed the translocation to be t(4;10)(q35;p11). The propositus was therefore trisomic 10p. The essential clinical features were: a small birth weight and a short birth length; hypotonia; psychomotor retardation; dolichocephalia; a high and bulky forehead; narrow lips; large, lowset ears with a posterior rotation; a small chin; bone and joint anomalies; dextrocardia.

Abnormalities, Multiple↗