[Trisomy 11q. Individualization of a new syndrome].
The comparison of nine examples of trisomy for the distal segment of 11q permits definition of a clinical syndrome which includes the following: axial hypotonia with hypertonia of the limbs; an old-looking wrinkled face; a large beaked nose; microretrognathia with malformation of the palate; low-set ears; a prominent anterior helix; a prominent anthelix; a short neck; a narrow chest with nipples set widely apart; micropenis in the boys; congenital heart disease; renal agenesis or malformations of the urinary tract; agenesis of the thoracic girdle; dysplasia of the acetabulum; clubfeet.
D000015:Abnormalities, Multiple; D018376:Cardiovascular Abnormalities; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D003025:Clubfoot; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D010413:Penis / Q000002:abnormalities; D012863:Skeleton / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie 11q. Individualisation d'un nouveau syndrome