Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12.

Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a clinically identifiable syndrome, monosomy 12p is characterized by a wide phenotypic spectrum. We report two cousins suffering from severe mental retardation, seizures, and dysmorphic features related to a trisomy 12q24.3-->qter and a monosomy 12p13-->pter resulting from a familial pericentric inversion of chromosome 12. In an attempt to improve the clinical delineation of these two syndromes, we compared our two patients with previous reports of these aneusomies. This review emphasizes the high frequency of familial translocations, including a breakpoint at 12q24 involved in trisomy 12q whereas monosomy 12p occurs most frequently de novo. Despite the poor specificity of the signs, this comparison allowed us to determine the clinical features present in more than 20% of patients with trisomy 12q or monosomy 12p. We particularly emphasize some consistent leading features of monosomy 12p, including microcephaly, dental, cardio-vascular, extremity, and sensorial abnormalities, initially not reported as recurrent in this syndrome.

[Renocolonic fistula complicating vesicorenal reflux and xanthogranulomatous pyelonephritis in a 20-month-old child]. / Fistule réno-colique compliquant un reflux vésico-rénal et une pyélonéphrite xanthogranulomateuse chez un enfant de 20 mois.

A case of vesico-renal reflux with xanthogranulomatous pyelonephritis complicated with a renocolic fistula in a 20 months old child is reported. Imaging in this case was crucial for the diagnosis and the work up; it included ASP, renal ultrasound, UIV retrograde cystography and CT. The treatment consisted in a right ureteronephrectomy after fistula's section.

[A cry of alarm from non-university hospital pediatric departments. What future?]. / Cri d'alarme des services de pédiatrie des hôpitaux non universitaires. Quel avenir?

A survey by questionnaire was carried out among pediatricians of the departments of pediatrics of the non university hospitals in France in order to know the activity and the conditions of work of these departments. Responses were obtained from 84 of the 140 departments of pediatrics. The results emphasized the important activity of these departments contrasting with frequent insufficiencies of the medical staff and equipment. Solutions are proposed in order to avoid an aggravation of the actual situation.

Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5).

Five members of our study family were carriers of a balanced insertion (10;5) (q22;q13;q22). One of the children had psychomotor retardation and malformations resulting from a partial trisomy of the proximal long arm of chromosome 5, having received the maternal der(10). Amniocentesis identified another case of partial proximal trisomy in a fetus of a subsequent pregnancy. This clinical and family study is compared with two other published cases of proximal trisomy 5q.