A tale of two deletions: a report of two novel 20p13 --> pter deletions.
We report on two patients with 1.7 and 1.2 Mb terminal 20p deletions, which have apparently not been reported previously. Both individuals exhibit certain similar features including large fontanelles, ear abnormalities, and seizures. However, even though the deletions are of similar size, there were many disparate features between the two. The deletions in each patient encompass at least 28 genes that may provide useful candidates for ear development and cranial ossification.
McGill
Anna K
AK
Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202-5251, USA.
Pastore
Matthew T
MT
Herman
Gail E
GE
Alliman
Sarah
S
Rosenfeld
Jill A
JA
Weaver
David D
DD
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy