Within the last year
Within the past 3 years
1 - 10 of 19 articles
An infant girl presented with multiple congenital abnormalities and a distinctive mewing cry. Her karyotype was 46,XX,add5p. Chromosome analysis on the mother revealed an apparently balanced pericentric inversion of chromosome 5, with the precise position of the breakpoints not clearly...
We observed a 46, XY infant with atrophy of the optic nerve, complex congenital heart disease including a double outlet right ventricle, hypoplasia of the right pulmonary artery and lung, eventration of the diaphragm, and ambiguous genitalia. The baby died of cardiac arrhythmias at 204 days. The...
The combination of autosomal dominant, early onset Paget disease of bone (PDB) and muscular dystrophy is an unusual disorder. We recently mapped the disorder in a large family from central Illinois with PDB and proximal limb‐girdle type of muscular dystrophy (LGMD), and in 3 additional families...
The previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5‐year‐old boy. Having excluded major...
Echocardiography has become the method of choice in the diagnosis of a congenital heart defect (CHD) in neonates with Down syndrome. The most compelling argument for diagnosis of CHD in the neonatal period is the need for early surgical intervention (ideally prior to 6 months of age) in those...
ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease (HSCR)), and deafness. This phenotype clearly overlaps with the features of the Shah‐Waardenburg syndrome, comprising sensorineural...
A five‐year‐old Caucasian male presented with developmental delay, minor dysmorphic features, and hyperactivity. Cytogenetic analysis showed the presence of a marker chromosome in the majority of cells analyzed. Fluorescence in situ hybridization (FISH) analyses using several alpha satellite...
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.