17q21.31 Microdeletion syndrome: Further expanding the clinical phenotype

Cytogenetic and Genome Research

Volumn 127, Issue 1, 2010, Pages 61-66

  Sharkey, F H ^a   Morrison, N ^b   Murray, R ^a   Iremonger, J ^a   Stephen, J ^c   Maher, E ^a   Tolmie, J ^b   Jackson, A P ^d  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c BORDERS GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

17q21.31; Array CGH; Microdeletion syndrome; Phenotype

Indexed keywords

METHOTREXATE; SUCRASE ISOMALTASE;

ABDOMINAL RADIOGRAPHY; ADOLESCENT; ADULT; ARTICLE; BIRTH WEIGHT; BREECH PRESENTATION; CASE REPORT; CHILD; CHROMOSOME 17Q; CHROMOSOME 17Q21.31 MICRODELETION SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DISORDER; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; CRANIOFACIAL SYNOSTOSIS; DISEASE SEVERITY; DYSPHAGIA; DYSPRAXIA; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FETUS DISTRESS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; GENETIC SCREENING; GRAY MATTER; HUMAN; HYPERSALIVATION; INTESTINE MALFORMATION; IRIS COLOBOMA; JEJUNUM BIOPSY; JUVENILE RHEUMATOID ARTHRITIS; LEARNING DISORDER; LOW SET EAR; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PALMAR DERMATOGLYPHICS; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SITUS INVERSUS; SPEECH DEVELOPMENT; SUBMANDIBULAR GLAND; SUCKING; SYSTOLIC HEART MURMUR; TELANGIECTASIA; THORAX RADIOGRAPHY; TUBE FEEDING;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEARNING DISORDERS; MALE; MUSCLE HYPOTONIA; PHENOTYPE; YOUNG ADULT;

EID: 77949542021     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000279260     Document Type: Article

References (11)

1. Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, et al: A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6: 147-155 (1997).
2. Dallapiccola B, Mingarelli R, Digillo C, Obregon MG, Gianotti A: Interstitial deletion del (17)(q21.3q23 or q24) syndrome. Clin Genet 43: 54-55 (1993).
3. Fantes JA, Boland E, Ramsay J, Splitt M, Goodship JA, et al: FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet 82: 916-926 (2008).
4. Khalifa MM, MacLeod PM, Duncan AM: Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 44: 258-261 (1993).
5. Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M: A 17q21.311 microduplication, reciprocal to the newly described 17q21.311 microdeletion in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 50: 256-263 (2007).
6. Koolen DA, Vissers LELM, Pfundt R, de Leew N, Knight SJL, et al: A new chromosome 17q21.311 microdeletion syndrome associated with a common inversion polymophism. Nat Genet 38: 999-1001 (2006).
7. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, et al: Clinical and molecular delineation of the 17q21.311 microdeletion syndrome. J Med Genet 11: 710-720 (2008).
8. Lupski JR: Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14: 417-422 (1998).
9. Park JP, Moeschler JB, Berg SZ, Wurster-Hill DH: A unique de novo interstitial del(17) (q21.3q23) in a phenotypically abnormal infant. Clin Genet 41: 54-56 (1992).
10. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, et al: Microdeletion encompassing MAPT at chromosome 17q21.31 is associated with developmental delay and learning disability. Nat Genet 38: 1032-1037 (2006).
11. Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, et al: Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet 46: 480-489 (2009).