Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report

Clin Dysmorphol. 2014 Oct;23(4):147-51. doi: 10.1097/MCD.0000000000000042.

Authors

Yavuz Şahin¹, Pelin Ö Kiper, Yasemin Alanay, Thomas Liehr, Gülen E Utine, Koray Boduroğlu

Affiliation

¹ Departments of aMedical Genetics bPediatrics, Pediatric Genetics, Hacettepe University, Ankara, Turkey cJena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Jena, Germany.

PMID: 25144152
DOI: 10.1097/MCD.0000000000000042

No abstract available

Publication types

Case Reports

MeSH terms

Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 3 / genetics*
Comparative Genomic Hybridization
Diaphragmatic Eventration / complications*
Diaphragmatic Eventration / genetics*
Face / abnormalities*
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Intellectual Disability / complications*
Intellectual Disability / genetics*
Monosomy / genetics
Pregnancy