Article
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.
American journal of medical genetics. Part A - 1 Apr 2014
Fukai Ryoko, Hiraki Yoko, Nishimura Gen, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Matsumoto Naomichi, Miyake Noriko
Abstract excerpt
Monosomy 21 is a very rare chromosomal abnormality. At least 45 patients with partial deletion involving 21q11 have been reported. Here, we report a Japanese boy who presented with pre- and postnatal growth delays, psychomotor developmental delay, microcephaly, and iris coloboma. Cytogenetic analysis revealed a de novo 1.4-Mb deletion at 21q22.11 containing 19 protein-coding RefSeq genes. We compared the clinical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.