A difficult cytogenetic diagnosis of 4p monosomy

Vittu, G.; Croquette, M.F.; Boidein, F.; Cousin, J.

Journal de Genetique Humaine 36(1-2): 75-82

1988


ISSN/ISBN: 0021-7743
PMID: 3379382
Document Number: 317608
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.

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