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Biomedical subjects

M Prieur

Publications and source records attributed to M Prieur.

At least 127 records · Page 7Linked to original sources
PubMed1977

[Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)].

A 6p+ chromosome was observed in a dysmorphic and mentally retarded child. The mother was found to be carrier of an insertion: ins(6;2) (p22;q24;q34). The patient was therefore trisomic for 2q24 leads to 2q34. The same insertion was found in his brother in the balanced state. A comparison of this observation and four other cases from the literature allows a description of the symptoms characteristic of trisomy 2q24 leads to 2q34 : mid-face hypoplasia, carp-shaped mouth, neurological disorders, severe mental retardation.

Child↗
PubMed1976

[45, X/47, XY, +13 mosaicism in a 19-year-old girl].

The 45, X/47, XY, +13 mosaicism was observed in a 19-year-old mentally deficient girl who was examined because of primary amenorrhea. Certain clinical features were reminiscent of Turner's syndrome, while no features of trisomy 13 were present. The study of blood groups, HLA genotypes, and cytogenetic markers provided no evidence of chimerism.

Adolescent↗
PubMed1976

[The r(22) syndrome, Apropos of 4 new cases].

Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.

Adolescent↗