title: Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q.
abstract: During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted chorionic villus sampling at 13 weeks 2 days. Chromosome analysis showed an unbalanced karyotype with an abnormal chromosome 14. The mother was a carrier of a translocation karyotype 46,XX,t(13;14) (q34;q32.2). In the fetus this gave rise to a partial trisomy 13q and partial monosomy 14q (fetal karyotype: 46,XX,der[14]t[13;14][q34;q32.2]). By Array-CGH on DNA extracted from a postmortem skin culture, a duplication of approximately 1.7 Mbp of the distal part of chromosome 13q34 and a deletion of approximately 6.0 Mbp of the distal part of chromosome 14q32.2 was demonstrated. Postmortem findings after termination of pregnancy at 14 weeks 6 days included, among others, a severe hypoplasia of the median part of the maxilla, no recognizable nose, a broad median palatoschisis, nonlobulated lungs, a horseshoe kidney with multicystic dysplasia, and decreased development of cortical cellularity in the thymus. These clinical manifestations and autopsy findings of the fetus are compared with those of previously published cases and the possible involvement in this pathology of the YY1 and JAG2 transcription factors and the BCL11b and SIVA-1 regulators of thymic development is discussed.
authors.affiliation: Department of Biomedical Genetics, University Medical Centre Utrecht, The Netherlands.
authors.forename: J M
authors.initials: JM
authors.lastname: de Pater
authors.forename: P G J
authors.initials: PG
authors.lastname: Nikkels
authors.forename: M
authors.initials: M
authors.lastname: Poot
authors.forename: M J
authors.initials: MJ
authors.lastname: Eleveld
authors.forename: R H
authors.initials: RH
authors.lastname: Stigter
authors.forename: C J M
authors.initials: CJ
authors.lastname: van der Sijs-Bos
authors.forename: W H
authors.initials: WH
authors.lastname: Loneus
authors.forename: J J M
authors.initials: JJ
authors.lastname: Engelen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000025:Abortion, Eugenic; D000328:Adult; D015193:Chorionic Villi Sampling; D002883:Chromosomes, Human, Pair 14; D005145:Face / Q000002:abnormalities*; D005260:Female; D017353:Gene Deletion; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D036341:Intercellular Signaling Peptides and Proteins; D000072101:Jagged-2 Protein; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D048208:Nuchal Translucency Measurement; D009693:Nucleic Acid Hybridization / Q000379:methods; D011247:Pregnancy; D013950:Thymus Gland / Q000002:abnormalities*; D014178:Translocation, Genetic; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D050986:YY1 Transcription Factor / Q000235:genetics / Q000378:metabolism
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; C490504:JAG2 protein, human; D000072101:Jagged-2 Protein; D008565:Membrane Proteins; D050986:YY1 Transcription Factor; C494698:YY1 protein, human