Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 2953-2963

  Peddibhotla, Sirisha ^a   Khalifa, Mohamed ^c   Probst, Frank J ^a   Stein, Jennifer ^c   Harris, Leslie L ^b   Kearney, Debra L ^b   Vance, Gail H ^d   Bull, Marilyn J ^e   Grange, Dorothy K ^f   Scharer, Gunter H ^g,i   Kang, Sue Hae L ^h   Stankiewicz, Pawel ^a   Bacino, Carlos A ^a   Cheung, Sau W ^a   Patel, Ankita ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c AKRON CHILDREN'S HOSPITAL   (United States)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e RILEY HOSPITAL FOR CHILDREN   (United States)

^f ST LOUIS CHILDREN S HOSPITAL   (United States)

^g University of Colorado Denver and Children s Hospital Colorado   (United States)

^h Allina Hospitals & Clinics   (United States)

ⁱ MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

19p aberrations; 19p13.3 microdeletion; Dysmorphic features; Genomic microarray; Global developmental delay; Learning disability; Multiple congenital anomalies; Subtelomere; VACTERL

Indexed keywords

ARTICLE; CHILD; CHILD DEVELOPMENT; CHROMOSOMAL MICROARRAY ANALYSIS; CHROMOSOME 19P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME STRUCTURE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; EMBRYO DEVELOPMENT; FACE DYSMORPHIA; FEMALE; GENE SEQUENCE; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HAPLOINSUFFICIENCY; HUMAN; INFANT; LEARNING DISORDER; MALE; MICROARRAY ANALYSIS; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; TELOMERE;

19P ABERRATIONS; 19P13.3 MICRODELETION; DYSMORPHIC FEATURES; GENOMIC MICROARRAY; GLOBAL DEVELOPMENTAL DELAY; LEARNING DISABILITY; MULTIPLE CONGENITAL ANOMALIES; SUBTELOMERE; VACTERL;

ADULT; CHILD; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MALE; MICROARRAY ANALYSIS; TELOMERE;

EID: 84888034958     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35886     Document Type: Article

References (15)

1. Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA. 2010. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am J Med Genet Part A 152A:3148-3153.
2. Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT. 2005. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter. Am J Med Genet Part A 136A:38-44.
3. Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG. 2005. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? Am J Med Genet Part A 134A:259-267.
4. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. 2010. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 31:1326-1342.
5. Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. 2005. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 7:422-432.
6. de Smith AJ, van Haelst MM, Ellis RJ, Holder SE, Payne SJ, Hashim SK, Froguel P, Blakemore AI. 2011. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems. Am J Med Genet Part A 155A:1192-1195.
7. Fenton TR. 2003. A new growth chart for preterm babies: Babson and Benda's chart updated with recent data and a new format. BMC Pediatr 16:3-13.
8. Gu W, Zhang F, Lupski JR. 2008. Mechanisms for human genomic rearrangements. Pathogenetics 1:1755-8417.
9. Hurgoiu V, Suciu S. 1984. Occurrence of 19p- in an infant with multiple dysmorphic features. Ann Genet 27:56-57.
10. Lupski JR, Stankiewicz P. 2005. Genomic disorders: Molecular mechanisms for rearrangments and conveyed phenotypes. PLoS Genet 1:627-633.
11. Puttagunta R, Gordon LA, Meyer GE, Kapfhamer D, Lamerdin JE, Kantheti P, Portman KM, Chung WK, Jenne DE, Olsen AS, Burmeister M. 2000. Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints. Genome Res 10:1369-1380.
12. Rollins JD, Collins JS, Holden KR. 2010. United States head circumference growth reference charts: Birth to 21 years. J Pediatr 156:907-913.
13. Siggberg L, Olsen P, Nanto-Salonen K, Knuutila S. 2011. 19p13.3 aberrations are associated with dysmorphic features and psychomotor development. Cytogenet Genome Res 132:8-15.
14. Solomon BD. 2011. VACTERL/VATER association. Orphanet J Rare Dis 16:1750-1756.
15. Zhang F, Carvalho CM, Lupski JR. 2009. Complex human chromosomal and genomic rearrangements. Trends Genet 25:298-307.