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

Cheryl Descipio; Laura Conlin; Jill Rosenfeld; James Tepperberg; Romela Pasion; Ankita Patel; Marie T. McDonald; Swaroop Aradhya; Darlene Ho; Jennifer Goldstein; Marianne McGuire; Surabhi Mulchandani; Livija Medne; Rosemarie Rupps; Alvaro H. Serrano; Erik C. Thorland; Anne C.H. Tsai; Yvonne Hilhorst-Hofstee; Claudia A.L. Ruivenkamp; Hilde Van Esch; Marie Claude Addor; Danielle Martinet; Thornton B.A. Mason; Dinah Clark; Nancy B. Spinner; Ian D. Krantz

doi:10.1002/ajmg.a.35574

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

Cheryl Descipio
, Laura Conlin
, Jill Rosenfeld
, James Tepperberg
, Romela Pasion
, Ankita Patel
, Marie T. McDonald
, Swaroop Aradhya
, Darlene Ho
, Jennifer Goldstein
, Marianne McGuire
, Surabhi Mulchandani
, Livija Medne
, Rosemarie Rupps
, Alvaro H. Serrano
, Erik C. Thorland
, Anne C.H. Tsai
, Yvonne Hilhorst-Hofstee
, Claudia A.L. Ruivenkamp
, Hilde Van Esch

Marie Claude Addor, Danielle Martinet, Thornton B.A. Mason, Dinah Clark, Nancy B. Spinner, Ian D. Krantz

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	2152-2161
Number of pages	10
Journal	American Journal of Medical Genetics, Part A
Volume	158 A
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.35574
State	Published - Sep 2012

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

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

Access to Document

10.1002/ajmg.a.35574

Cite this

Descipio, C., Conlin, L., Rosenfeld, J., Tepperberg, J., Pasion, R., Patel, A., McDonald, M. T., Aradhya, S., Ho, D., Goldstein, J., McGuire, M., Mulchandani, S., Medne, L., Rupps, R., Serrano, A. H., Thorland, E. C., Tsai, A. C. H., Hilhorst-Hofstee, Y., Ruivenkamp, C. A. L., ... Krantz, I. D. (2012). Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. American Journal of Medical Genetics, Part A, 158 A(9), 2152-2161. https://doi.org/10.1002/ajmg.a.35574

Descipio, C, Conlin, L, Rosenfeld, J, Tepperberg, J, Pasion, R, Patel, A, McDonald, MT, Aradhya, S, Ho, D, Goldstein, J, McGuire, M, Mulchandani, S, Medne, L, Rupps, R, Serrano, AH, Thorland, EC, Tsai, ACH, Hilhorst-Hofstee, Y, Ruivenkamp, CAL, Van Esch, H, Addor, MC, Martinet, D, Mason, TBA, Clark, D, Spinner, NB & Krantz, ID 2012, 'Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization', American Journal of Medical Genetics, Part A, vol. 158 A, no. 9, pp. 2152-2161. https://doi.org/10.1002/ajmg.a.35574

@article{3c24435eefe24aabbf510539b5ab8c53,

title = "Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization",

keywords = "10p15.3, Chromosomal microarray (CMA), Deletion, DIP2C, ZMYND11",

author = "Cheryl Descipio and Laura Conlin and Jill Rosenfeld and James Tepperberg and Romela Pasion and Ankita Patel and McDonald, \{Marie T.\} and Swaroop Aradhya and Darlene Ho and Jennifer Goldstein and Marianne McGuire and Surabhi Mulchandani and Livija Medne and Rosemarie Rupps and Serrano, \{Alvaro H.\} and Thorland, \{Erik C.\} and Tsai, \{Anne C.H.\} and Yvonne Hilhorst-Hofstee and Ruivenkamp, \{Claudia A.L.\} and \{Van Esch\}, Hilde and Addor, \{Marie Claude\} and Danielle Martinet and Mason, \{Thornton B.A.\} and Dinah Clark and Spinner, \{Nancy B.\} and Krantz, \{Ian D.\}",

year = "2012",

month = sep,

doi = "10.1002/ajmg.a.35574",

language = "English",

volume = "158 A",

pages = "2152--2161",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

number = "9",

}

TY - JOUR

T1 - Subtelomeric deletion of chromosome 10p15.3

T2 - Clinical findings and molecular cytogenetic characterization

AU - Descipio, Cheryl

AU - Conlin, Laura

AU - Rosenfeld, Jill

AU - Tepperberg, James

AU - Pasion, Romela

AU - Patel, Ankita

AU - McDonald, Marie T.

AU - Aradhya, Swaroop

AU - Ho, Darlene

AU - Goldstein, Jennifer

AU - McGuire, Marianne

AU - Mulchandani, Surabhi

AU - Medne, Livija

AU - Rupps, Rosemarie

AU - Serrano, Alvaro H.

AU - Thorland, Erik C.

AU - Tsai, Anne C.H.

AU - Hilhorst-Hofstee, Yvonne

AU - Ruivenkamp, Claudia A.L.

AU - Van Esch, Hilde

AU - Addor, Marie Claude

AU - Martinet, Danielle

AU - Mason, Thornton B.A.

AU - Clark, Dinah

AU - Spinner, Nancy B.

AU - Krantz, Ian D.

PY - 2012/9

Y1 - 2012/9

KW - 10p15.3

KW - Chromosomal microarray (CMA)

KW - Deletion

KW - DIP2C

KW - ZMYND11

UR - https://www.scopus.com/pages/publications/84865551333

UR - https://www.scopus.com/pages/publications/84865551333#tab=citedBy

U2 - 10.1002/ajmg.a.35574

DO - 10.1002/ajmg.a.35574

M3 - Article

C2 - 22847950

AN - SCOPUS:84865551333

SN - 1552-4825

VL - 158 A

SP - 2152

EP - 2161

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 9

ER -

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

ASJC Scopus Subject Areas

Keywords

Access to Document

Other files and links

Cite this