[A case of partial 6q trisomy diagnosed at birth].
This report concerns a male newborn investigated with chromosomal analysis due to dysmorphic and malformative signs. His caryotype was 46,XY but the short arm of one 3 was not normal: parental chromosomes showed a maternal balanced translocation (3;6)(p25;q23) which had led to 6q23----6qter duplication in the patient. The phenotype was like the twenty-one cases found in the literature: it is characterized by facial dysmorphism (bow shaped mouth, high prominent forehead, protruding ocular bulbs, anteverted nostrils), short neck with pterigium, flexion contractures especially at extremities and neurological problems as well as internal malformations. Moreover, it seems not affected, or very little, by monosomies accompanying unbalanced translocations.
Bartalena
L
L
Cattedra di neonatologia, Università di Pisa.
D'Accavio
L
L
Pellegrinetti
C
C
Tarantino
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002896:Chromosomes, Human, Pair 6; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy
Un caso di trisomia 6q parziale diagnosticato alla nascita.