[Monosomy 7qter: 2 new cases of chromosomal pathology with aspecific disorders of pre- and post-natal development].
Many cases of 7q deletion associated with mental retardation and multiple malformations have been described, nevertheless it is quite different to recognize common features among these infants. In this paper the cases of two female infants with uncommon facial features and 7q deletion are described. We also try to recognize the phenotypic features of this chromosomal disorder.
Vianello
M G
MG
II Clinica Pediatrica G. Gaslini, Università degli Studi di Genova.
Cottafava
F
F
Bartoli
D
D
Piccotti
E
E
Gastaldi
R
R
Balagi
C
C
Casazza
R
R
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping
Monosomia 7qter: due nuovi casi di una patologia cromosomica con disturbi aspecifici dello sviluppo pre- e post-natale.