A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

• Published in: American journal of medical genetics. Part A 2005-05, Vol.134A (4), p.434-438
• Main Authors: Õunap, Katrin, Ilus, Tiiu, Bartsch, Oliver
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Brachmann–de Lange syndrome; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders - genetics; Chromosome Disorders - pathology; Chromosome Inversion; Chromosomes, Human, Pair 3 - genetics; duplication 3q syndrome; Face - abnormalities; Fatal Outcome; Female; Heart Defects, Congenital - pathology; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Karyotyping; Limb Deformities, Congenital - pathology; Syndrome; triplication 3q25.3 → q29; Trisomy
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.30134

We report a newborn girl with intrachromosomal triplication of 3q25.3 → q29 (mosaicism) who died at the age of 3.5 weeks due to her malformations. She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy–Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q) syndrome previously. The facial appearance (hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, low set malformed and posteriorly rotated ears) showed resemblance to the Brachmann–de Lange syndrome (BDLS), but the patient did not fulfill the diagnostic criteria for BDLS. There has been only one report of a direct triplication of chromosome 3 until now, but in our case the triplicated area is larger, located more proximally, and includes the hypothetical BDLS critical gene region‐CDL1. Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS. © 2005 Wiley‐Liss, Inc.