title: A case with mosaic partial duplication of 1q: prenatal and postmortem clinical and cytogenetic evaluations.
abstract: Partial trisomy 1q including different segments of the long arm is a rare cytogenetic anomaly. Especially the cases with mosaic proximal tandem duplication of 1q included a longer fragment are very rare. Cases who have partial 1q trisomy showed large phenotypic variation due to the differences in size of the duplicated segments of 1q. The clinical phenotype of most cases is characterized by multiple congenital anomalies especially including central nervous system and developmental delay. We describe a prenatally diagnosed case with mild cerebral ventriculomegaly and karyotype with mosaic pure trisomy of chromosome 1q [(46,XX/46,XX,dup(1)(q21qter)]. Phenotypic postmortem examination showed cranial asymmetry, flat and broad nasal bridge, anteverted nostrils, hypertelorism, retrognathia, abnormal pinnae, hypoplasic thumbs, long fingers and toes, mediodorsal curvature of the 4th and 5th toes and posterior prominence of the heel was observed. Autopsy confirmed the ventriculomegaly. Postmortem chromosome preparation from skin culture, cord blood and intracardiac blood confirmed the mosaic pure trisomy of chromosome 1q.
authors.affiliation: Department of Medical Genetics, Gazi University Faculty of Medicine, 06500 Ankara, Turkey.
authors.forename: M Yirmibes
authors.initials: MY
authors.lastname: Karaoguz
authors.forename: A
authors.initials: A
authors.lastname: Biri
authors.forename: E
authors.initials: E
authors.lastname: Pala
authors.forename: D
authors.initials: D
authors.lastname: Kan
authors.forename: A
authors.initials: A
authors.lastname: Poyraz
authors.forename: M
authors.initials: M
authors.lastname: Kurdoglu
authors.forename: E F
authors.initials: EF
authors.lastname: Percin
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D000782:Aneuploidy; D001344:Autopsy; D002552:Cerebral Ventricles / Q000002:abnormalities; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods*; D004453:Echoencephalography; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D009030:Mosaicism; D010641:Phenotype; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*