title: A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12.
abstract: We observed a neonate with cleft lip and palate, 13 sets of ribs, agenesis of the corpus callosum, slightly small penis, hypoglycemia, and what initially appeared to be a marked leukocyte 'left shift' on complete blood count, but which was actually a Pelger-Huët anomaly. A chromosomal microdeletion was identified at1q41-42.12.
authors.affiliation: Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, UT 84403, USA. rdchris4@ihc.com
authors.forename: R D
authors.initials: RD
authors.lastname: Christensen
authors.forename: H M
authors.initials: HM
authors.lastname: Yaish
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020411:Oligonucleotide Array Sequence Analysis; D010381:Pelger-Huet Anomaly / Q000175:diagnosis* / Q000235:genetics