A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

@article{Pallotta2001APD,
  title={A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.},
  author={Rosanna Pallotta and Leda Dalpr{\`a} and Monica Miozzo and Tamara Ehresmann and Paola Fusilli},
  journal={American journal of medical genetics},
  year={2001},
  volume={104 4},
  pages={282-6}
}
A patient with microbrachycephaly, high forehead, long philtrum, thin upper lip, downturned corners of the mouth, low set ears with overlapping helix, fifth-finger clinodactyly, small hands and feet, bilateral transverse palmar crease, low total finger ridge count, hypotonia, severe growth and psychomotor delay, mild hypoplasia of corpus callosum, and Arnold-Chiari type 1 malformation is reported. The karyotype showed 46, XY, del(1)(q23q31.2). Coagulation factor V (F5, 1q23) and coagulation… CONTINUE READING