Within the last year
Within the past 3 years
1 - 10 of 17 articles
10.1002/ajmg.1320020403.abs Eighty normal Caucasians were studied by CBG technique for estimation of size and inversion heteromorphisms of chromosomes 1, 9, and 16. Size heteromorphisms were classified into one of five sizes using 16p as a reference standard: very small, small, intermediate,...
10.1002/ajmg.1320020404.abs Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was...
10.1002/ajmg.1320020408.abs Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low‐normal UBS: LBS ratio, and peripheral corneal punctate...
10.1002/ajmg.1320020410.abs We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X‐linked, or possibly autosomal dominant male‐limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG...
10.1002/ajmg.1320020402.abs The main radiologic findings from four unrelated cases and two sibs with acheiropodia are presented and discussed. On the basis of such analysis, a clinical and radiologic description of the anomaly is given. The presence of one or more fingers and of a small bone...
Read and print from thousands of top scholarly journals.
Sign up with Facebook
Sign up with Google
Already have an account? Log in
Save this article to read later. You can see your Read Later on your DeepDyve homepage.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Sign Up Log In
To subscribe to email alerts, please log in first, or sign up for a DeepDyve account if you don’t already have one.
To get new article updates from a journal on your personalized homepage, please log in first, or sign up for a DeepDyve account if you don’t already have one.