title: Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
abstract: Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrangement: only five patients have been reported, mostly involving a ring chromosome 13. We report on additional three fetuses with pure inv dup del 13q: Patient 1 had macrosomia, enlarged kidneys, hypersegmented lungs, unilateral moderate ventriculomegaly, and a mild form of hand and feet preaxial polydactyly; Patient 2 had intrauterine growth retardation, widely spaced eyes, left microphthalmia, right anophthalmia, short nose, bilateral absent thumbs, cutaneous syndactyly of toes 4 and 5, bifid third metacarpal, a small left kidney, hyposegmented lungs, and partial agenesis of the corpus callosum; Patient 3 had widely spaced eyes, long and smooth philtrum, low-set ears, median notch in the upper alveolar ridge, bifid tongue, cutaneous syndactyly of toes 2 and 3, enlarged kidneys and pancreas, arhinencephaly, and partial agenesis of the corpus callosum. We compared the phenotypes of these patients to those previously reported for ring chromosome 13, pure 13q deletions and duplications. We narrowed some critical regions previously reported for lung, kidney and fetal growth, and for thumb, cerebral, and eye anomalies.
authors: Department of Developmental Biology, AP-HP, Robert Debré University Hospital, Paris and Diderot University, Paris, France; Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France.
authors: Chloe
authors: C
authors: Quelin
authors: Emmanuel
authors: E
authors: Spaggiari
authors: Suonavy
authors: S
authors: Khung-Savatovsky
authors: Celine
authors: C
authors: Dupont
authors: Laurent
authors: L
authors: Pasquier
authors: Laurence
authors: L
authors: Loeuillet
authors: Sylvie
authors: S
authors: Jaillard
authors: Josette
authors: J
authors: Lucas
authors: Pascale
authors: P
authors: Marcorelles
authors: Hubert
authors: H
authors: Journel
authors: Khantaby
authors: K
authors: Pluquailec-Bilavarn
authors: Anne
authors: A
authors: Bazin
authors: Alain
authors: A
authors: Verloes
authors: Anne-Lise
authors: AL
authors: Delezoide
authors: Azzedine
authors: A
authors: Aboura
authors: Fabien
authors: F
authors: Guimiot
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology*; D007446:Chromosome Inversion / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D005333:Fetus / Q000473:pathology*; D020440:Gene Duplication / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D010641:Phenotype; D012303:Ring Chromosomes
keywords: inv dup del 13q; phenotype; prenatal