[Trisomy 10 p. A previously reported case explained by binding].
A previously reported male infant having died at 4 months, was considered trisomic Cp, his mother being carrier of balanced translocation t(Cp-;Bq +). Reexamination of the chromosome complement after R-banding showed the translocation to be t(4;10)(q35;p11). The propositus was therefore trisomic 10p. The essential clinical features were: a small birth weight and a short birth length; hypotonia; psychomotor retardation; dolichocephalia; a high and bulky forehead; narrow lips; large, lowset ears with a posterior rotation; a small chin; bone and joint anomalies; dextrocardia.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome; D014314:Trisomy
Trisomie 10p. Une observation ancienne précisée par marquage