[Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation].
The authors report the case of a newborn full term delivered by cesarean section for evolutive hydrocephalus, in the last month of pregnancy. This hydrocephalus was confirmed by echography after birth. This also having ambiguous genitalia and atresia ani, he died a few hours later. No evidence of infectious or toxic embryofetopathy was found out as an etiologic factor, but the karyotype of the baby showed a 13 q deletion and that of the mother a non reciprocal Xqter; 13q31.3 translocation. The study of inactivation of X indicated that the inactivated X chromosome in each cell was normal. On this occasion, the authors try to bring together the main points of "13q-syndrome" and discuss on the practical approach of antenatal diagnosis which they could propose to the couple.
Vittu
G
G
Hôpital Saint-Antoine, Lille.
Croquette
M F
MF
Donney
A
A
Duminy
F R
FR
Couturier
J
J
Cousin
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome
Syndrome polymalformatif léthal avec délétion 13q secondaire à une translocation maternelle X; 13.