title: A phenotype map for 14q32.3 terminal deletions.
abstract: Detailed molecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype maps for many of the corresponding syndromes, including the terminal deletion 14q syndrome, are only slowly emerging. Here, we report on five patients with terminal partial monosomy of 14q32.3 and characteristic features of terminal deletion 14q syndrome. Four of the patients carry de novo terminal deletions of 14q, three of which have not yet been reported. One patient carries an unbalanced translocation der(14)t(9;14)(q34.3;q32.3). Minimum deletion sizes as determined by molecular karyotyping and FISH are 5.82, 5.56, 4.17, 3.54, and 3.29 Mb, respectively. Based on our findings and a comprehensive review of the literature, we refine the phenotype map for typical clinical findings of the terminal deletion 14q syndrome (i.e., intellectual disability/developmental delay, muscular hypotonia, postnatal growth retardation, microcephaly, congenital heart defects, genitourinary malformations, ocular coloboma, and several dysmorphic signs). Combining this phenotype map with benign copy-number variation data available from the Database of Genomic Variants, we propose a small region critical for certain features of the terminal deletion 14q syndrome which contains only seven RefSeq genes.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany. hartmut.engels@uni-bonn.de
authors.forename: Hartmut
authors.initials: H
authors.lastname: Engels
authors.forename: Herdit M
authors.initials: HM
authors.lastname: Schüler
authors.forename: Alexander M
authors.initials: AM
authors.lastname: Zink
authors.forename: Eva
authors.initials: E
authors.lastname: Wohlleber
authors.forename: Antje
authors.initials: A
authors.lastname: Brockschmidt
authors.forename: Alexander
authors.initials: A
authors.lastname: Hoischen
authors.forename: Matthias
authors.initials: M
authors.lastname: Drechsler
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Lee
authors.forename: Kerstin U
authors.initials: KU
authors.lastname: Ludwig
authors.forename: Christian
authors.initials: C
authors.lastname: Kubisch
authors.forename: Gesa
authors.initials: G
authors.lastname: Schwanitz
authors.forename: Ruthild G
authors.initials: RG
authors.lastname: Weber
authors.forename: Barbara
authors.initials: B
authors.lastname: Leube
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Martina
authors.initials: M
authors.lastname: Kreiss-Nachtsheim
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D018628:Gene Dosage / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D005858:Germany; D006801:Humans; D007223:Infant; D008297:Male; D009426:Netherlands; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D014421:Turkey