Document Detail

Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q.
MedLine Citation:
PMID:  16222479     Owner:  NLM     Status:  MEDLINE    
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.
J M de Pater; P G J Nikkels; M Poot; M J Eleveld; R H Stigter; C J M van der Sijs-Bos; W H Loneus; J J M Engelen
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2005-10-12
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  8     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2005 Jul-Aug
Date Detail:
Created Date:  2005-11-07     Completed Date:  2005-12-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  497-503     Citation Subset:  IM    
Department of Biomedical Genetics, University Medical Centre Utrecht, The Netherlands.
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MeSH Terms
Abnormalities, Multiple / genetics*
Abortion, Eugenic
Chorionic Villi Sampling
Chromosomes, Human, Pair 14*
Face / abnormalities*
Gene Deletion*
Gestational Age
In Situ Hybridization, Fluorescence
Intercellular Signaling Peptides and Proteins
Membrane Proteins / genetics,  metabolism
Nuchal Translucency Measurement
Nucleic Acid Hybridization / methods
Thymus Gland / abnormalities*
Translocation, Genetic
Ultrasonography, Prenatal
YY1 Transcription Factor / genetics,  metabolism
Reg. No./Substance:
0/Intercellular Signaling Peptides and Proteins; 0/JAG2 protein, human; 0/Membrane Proteins; 0/YY1 Transcription Factor; 0/YY1 protein, human

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