[Major malformation syndrome and apparently balanced chromosomal abnormality: holoprosencephaly and 5p; 12q translocation].
Observation of holoprosencephaly associated to chromosomic aberration (balanced translocation 5p; 12q); genetic council may be difficult in case of familial translocation.
Cousin
J
J
Clinique médicale infantile et des maladies infectieuses, Hôpital Saint-Antoine, Lille.
Creusy
C
C
Croquette
M F
MF
Vittu
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D016135:Spinal Dysraphism / Q000235:genetics*; D014178:Translocation, Genetic
Syndrome malformatif majeur et anomalie chromosomique apparemment équilibrée: holoprosencéphalie et translocation 5p; 12q.