title: Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.
abstract: We report on a 12 year-old boy presenting with severe developmental delay, dysmorphic features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum. Conventional and high-resolution cytogenetic analyses were normal. CGH-array allowed characterisation of a de novo 6.2 Mb 18q21.2q21.32 interstitial deletion involving TCF4, the recently identified gene responsible for Pitt-Hopkins syndrome (PHS). No tachypnoea-apnoea paroxysms were observed. We discuss the dysmorphic features particularly involving the ears, which might be helpful towards PHS and 18q21 deletion diagnosis.
authors.affiliation: Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France. j-andrieux@chru-lille.fr
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Frédéric
authors.initials: F
authors.lastname: Lepretre
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Bruno
authors.initials: B
authors.lastname: Delobel
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder-Espinasse
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002648:Child; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D004268:DNA-Binding Proteins; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion; D051820:TCF Transcription Factors / Q000235:genetics*; D000073940:Transcription Factor 4; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; D051820:TCF Transcription Factors; C532096:TCF4 protein, human; C544894:TCF7L2 protein, human; D000073940:Transcription Factor 4; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors