Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2152-2161

  Descipio, Cheryl ^a   Conlin, Laura ^b   Rosenfeld, Jill ^c   Tepperberg, James ^d   Pasion, Romela ^d   Patel, Ankita ^e   McDonald, Marie T ^f   Aradhya, Swaroop ^g   Ho, Darlene ^g   Goldstein, Jennifer ^f   McGuire, Marianne ^h   Mulchandani, Surabhi ^b   Medne, Livija ^b   Rupps, Rosemarie ⁱ   Serrano, Alvaro H ^h   Thorland, Erik C ^j   Tsai, Anne C H ^k   Hilhorst Hofstee, Yvonne ^l   Ruivenkamp, Claudia A L ^l   Van Esch, Hilde ^m   Addor, Marie Claude ⁿ   Martinet, Danielle ⁿ   Mason, Thornton B A ^b   Clark, Dinah ^b   Spinner, Nancy B ^b,o   Krantz, Ian D ^b   more..

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c Signature Genomics   (United States)

^d LABORATORY CORPORATION OF AMERICA   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

^g GENEDX   (United States)

^h CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

ⁱ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^j MAYO CLINIC   (United States)

^k CHILDREN S HOSPITAL   (United States)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁿ LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^o UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

10p15.3; Chromosomal microarray (CMA); Deletion; DIP2C; ZMYND11

Indexed keywords

CARBAMAZEPINE;

ADULT; ARTICLE; BEHAVIOR DISORDER; BRAIN DISEASE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MAP; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DIP2C GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; LANGUAGE DISABILITY; LOW DRUG DOSE; MALE; MICROARRAY ANALYSIS; MOTOR RETARDATION; MUSCLE HYPOTONIA; OCCUPATIONAL THERAPY; PHENOTYPIC VARIATION; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; SPEECH THERAPY; SUBTELOMERIC CHROMOSOME 10P15.3 DELETION; ZMYND11 GENE;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; TELOMERE;

EID: 84865551333     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35574     Document Type: Article

References (8)

1. Chen CX, Cho DS, Wang Q, Lai F, Carter KC, Nishikura K. 2000. A third member of the RNA-specific adenosine deaminase gene family, ADAR3, contains both single- and double-stranded RNA binding domains. RNA 6: 755-767.
2. Cho YG, Kim CJ, Park CH, Yang YM, Kim SY, Nam SW, Lee SH, Yoo NJ, Lee JY, Park WS. 2005. Genetic alterations of the KLF6 gene in gastric cancer. Oncogene 24: 4588-4590.
3. DeScipio C, Spinner NB, Kaur M, Yaeger D, Hu S, Shan S, Krantz ID, Riethman H. 2008. Fine-mapping subtelomeric deletions and duplication by comparative genomic hybridization in 42 individuals using a newly developed telomere array. Am J Med Genet Part A 146A: 730-739.
4. Krisans SK, Ericsson J, Edwards PA, Keller GA. 1994. Farnesyl-diphosphate synthase is localized in peroxisomes. J Biol Chem 269: 14165-14169.
5. Kurozumi K, Nishita M, Yamaguchi K, Fujita T, Ueno N, Shibuya H. 1998. BRAM1, a BMP receptor-associated molecule involved in BMP signaling. Genes Cells 3: 257-264.
6. Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, Anderlid B-M, Golovleva I, Schoumans J, Blennow E. 2010. Molecular and clinical characterization of patients with overlapping 10p deletions. Am J Med Genet Part A 152A: 1233-1243.
7. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O. 1999. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 6: 63-70.
8. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11, 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. Med Genet 43: 478-489.