[A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].
We describe a case of (2) (q34;q36) deletion in a girl. The main clinical features of the proband are staturo-ponderal retardation, skull-face dysmorphia and an interauricular communication. The relationship between morphological and chromosomal abnormalities is discussed.
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics
Etude chromosomique et clinique d'und fillette porteuse d'une deletion (2) (q34q36)