Potocki-Lupski syndrome: A microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive

Journal of Pediatrics

Volumn 158, Issue 4, 2011, Pages

  Soler Alfonso, Claudia ^a   Motil, Kathleen J ^a,b,d   Turk, Catherine L ^c,d   Robbins Furman, Patricia ^a   Friedman, Ellen M ^a   Zhang, Feng ^a   Lupski, James R ^a,d   Fraley, J Kennard ^b   Potocki, Lorraine ^a,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHILDREN S NUTRITION RESEARCH CENTER   (United States)

^c Department of Speech Language and Learning Disorders ^*  (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BODY HEIGHT; BODY MASS; BODY WEIGHT; CARDIOVASCULAR MALFORMATION; CAUCASIAN; CHILD; CHILD GROWTH; CHROMOSOME 17; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DYSPHAGIA; ENT EXAMINATION; ETHNICITY; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; HIGH ARCHED PALATE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MEDICAL RECORD REVIEW; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPOTONIA; PHYSICAL EXAMINATION; POTOCKI LUPSKI SYNDROME; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RACE DIFFERENCE; SWALLOWING;

EID: 79952573456     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.09.062     Document Type: Article

References (14)

1. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, et al. Molecular mechanismfor duplication 17p11.2: the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-7. (Pubitemid 30041427)
2. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007;80:633-49. (Pubitemid 46564401)
3. Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, et al. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet 2010;86:462-70.
4. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007;17:182-92. (Pubitemid 46843553)
5. Treadwell-Deering DE, Powell MP, Potocki L. Cognitive and behavioral characterization of the potocki-lupski syndrome (duplication 17p11.2). J Dev Behav Pediatr 2010;31:137-43.
6. Jefferies JL, Martinez H, Pignatelli R, Robbins-Furman P, Lupski JR, Potocki L. Cardiovascular findings in Potocki-Lupski syndrome (PTLS). Annual Meeting of the American College of Medical Genetics A29. [Abstract-Poster presentation]. 2010.
7. Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, et al. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A 2005;138A:175-80. (Pubitemid 41384270)
8. Statitistics NCfH. CDC Growth Charts: United States. 2000.
9. Moog U. The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes. Am J Med Genet A 2005;137:228-31. (Pubitemid 41262696)
10. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 2008 Dec;122(6):1310-8.
11. Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997;17:154-63. (Pubitemid 27425947)
12. Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, et al. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol 2003;23:3646-55.
13. Walz K, Paylor R, Yan J, Bi W, Lupski JR. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17) (p11.2p11.2). J Clin Invest 2006;116:3035-41. (Pubitemid 44684488)
14. Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, et al. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet 2005;14:983-95. (Pubitemid 40575874)