[A difficult cytogenetic diagnosis of 4p monosomy].
Monosomy 4p is rare; cytogenetic diagnosis is difficult when it is not oriented by clinical signs such as severe hypotonia, profound encephalopathy and dysmorphism ("casque de guerrier grec"). Parenteral karyotype is indispensable in case of translocation.
Vittu
G
G
Clinique médicale infantile et des maladies infectieuses de la Faculté Libre, Hôpital Saint-Antoine, Lille.
Croquette
M F
MF
Boidein
F
F
Cousin
J
J
D000328:Adult; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D012886:Skull / Q000002:abnormalities*
Un diagnostic cytogénétique difficile de monosomie 4p.