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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation |
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee |
Clin Exp Pediatr. 2016;59(Suppl 1):S19-S24. Published online November 30, 2016 DOI: https://doi.org/10.3345/kjp.2016.59.11.S19 |
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3 De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for the MRX locus Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q |