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1.
[Joubert syndrome. Clinical contribution]. / Sindrome di Joubert. Contributo clinico.
Burroni, M; Perrotta, F; Rossolini, V.
Minerva Pediatr ; 32(11): 763-6, 1980 Jun 15.
Article in Italian | MEDLINE | ID: mdl-7464728

Subject(s)
Respiratory Tract Diseases/congenital , Adult , Apnea/complications , Ataxia/complications , Child , Child, Preschool , Female , Humans , Infant , Intellectual Disability/complications , Male , Respiratory Tract Diseases/complications , Syndrome
2.
A case of "g 2 deletion syndrome": ring or partial monosomy? (46,XX,22r or 46,XX,22p- ?).
Milani-Comparetti, M; Rossolini, V; Pace, D P; Burroni, M; Magistrelli, R; Saccucci, F.
Acta Genet Med Gemellol (Roma) ; 24(3-4): 311-3, 1975.
Article in English | MEDLINE | ID: mdl-1235937

ABSTRACT

A case of "G2 Deletion Syndrome" is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition if the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypotheses of deletion of the short arm extending into the centromere.


Subject(s)
Chromosome Aberrations/genetics , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, 21-22 and Y , Dermatoglyphics , Ear/abnormalities , Female , Humans , Karyotyping , Sex Characteristics , Syndrome
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