id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_wifc4otdp5gela6m6nbuwem5ni	Eric A. Muller	Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay	2011	9	.pdf	application/pdf	6265	722	58	Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay We present 10 previously unreported individuals with 9q22.3 deletions that include include PTCH1, of varying ethnic backgrounds and age at diagnosis, whose deletions were analyzed by array CGH after referral for Trigonocephaly, resulting from metopic craniosynostosis, was present in four individuals (Patients 1, 5, 7, and 8), each of 9q22 deletions that contain PTCH1 to include metopic craniosynostosis, obstructive hydrocephalus, and macrosomia, which are We cannot determine whether all of these individuals have interstitial deletions that contain PTCH1, as the diagnosis of BCNS was Similarly, some of the 27 previously described individuals with known interstitial 9q22 deletions that contain PTCH1 for the deleted allele in our reported individuals, as these studies demonstrated metopic craniosynostosis, compared to approximately 15% of the previously reported 27 individuals with interstitial 9q22 deletions. patient with an interstitial deletion of chromosome 9: Case report and a	./cache/work_wifc4otdp5gela6m6nbuwem5ni.pdf	./txt/work_wifc4otdp5gela6m6nbuwem5ni.txt