"Pure" partial trisomy 3p due to the malsegregation of a balanced maternal translocation t (X;3) (p22.3;p21).
The authors present the clinical and cytogenetic studies of a white malformed baby with dup (3p) secondary to the malsegregation of a maternal balanced (X;3) (p22.3;p21) translocation. Besides the typical clinical features he also presented polydactyly of both hands. X-replication findings of the mother's lymphocytes did not strictly follow the usual inactivation pattern of balanced X;A translocations.
de Almeida
J C
JC
Unidade de Citogenetica Humana, Instituto de Biofisica Carlos Chagas Filho CCS, UFRJ, BLOCO G, Cidade Universitária, Rio de Janeiro, Brasil.
Reis
D F
DF
Llerena
J C
JC
Pereira
E T
ET
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome / Q000648:ultrastructure*