TY - JOUR
T1 - Deletion of the Distal Long Arm of Chromosome 10; Is There a Characteristic Phenotype? A Report of 15 de Novo and Familial Cases
AU - Irving, Melita
AU - Hanson, Helen
AU - Turnpenny, Peter
AU - Brewer, Carole
AU - Ogilvie, Caroline Mackie
AU - Davies, Angela
AU - Berg, Jonathan
N1 - Copyright:
© 2003 Wiley-Liss, Inc.
PY - 2003/12/1
Y1 - 2003/12/1
N2 - It has been suggested previously that patients with terminal deletions of chromosome 10q have a recognizable phenotype including a characteristic facial appearance combined with other abnormalities including mental retardation, cardiac and anogenital anomalies. We report the largest published series of new cases of terminal 10q deletion, including eight familial and four de novo cases and three cases with interstitial deletions involving chromosome bands 10q25.2-26.3. The deleted regions were defined by FISH using YAC probes, as well as standard karyotyping. The most consistent clinical features in our cases are cranial anomalies including facial asymmetry, prominent nose and nasal bridge, prominent ears, thin upper lip, along with growth retardation, developmental delay, and digital abnormalities. Visceral abnormalities were only identified in a small number of the patients, with renal involvement in three cases and structural cardiac malformations in two others. Learning difficulties of varying severity were found in 11 cases and behavioral problems described in four. Candidate genes for behavioral and learning difficulties within the deleted region include Calcyon. Other genes in the region that might have a role in causing the phenotype include the genes type 2 (FGFR2) and C-terminal binding protein 2 (CTBP2).
AB - It has been suggested previously that patients with terminal deletions of chromosome 10q have a recognizable phenotype including a characteristic facial appearance combined with other abnormalities including mental retardation, cardiac and anogenital anomalies. We report the largest published series of new cases of terminal 10q deletion, including eight familial and four de novo cases and three cases with interstitial deletions involving chromosome bands 10q25.2-26.3. The deleted regions were defined by FISH using YAC probes, as well as standard karyotyping. The most consistent clinical features in our cases are cranial anomalies including facial asymmetry, prominent nose and nasal bridge, prominent ears, thin upper lip, along with growth retardation, developmental delay, and digital abnormalities. Visceral abnormalities were only identified in a small number of the patients, with renal involvement in three cases and structural cardiac malformations in two others. Learning difficulties of varying severity were found in 11 cases and behavioral problems described in four. Candidate genes for behavioral and learning difficulties within the deleted region include Calcyon. Other genes in the region that might have a role in causing the phenotype include the genes type 2 (FGFR2) and C-terminal binding protein 2 (CTBP2).
KW - Chromosomal deletion
KW - Chromosome 10
KW - Fluorescence in situ hybridization
KW - Learning difficulties
UR - http://www.scopus.com/inward/record.url?scp=0242426672&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.20220
DO - 10.1002/ajmg.a.20220
M3 - Article
C2 - 14598339
AN - SCOPUS:0242426672
SN - 1552-4825
VL - 123A
SP - 153
EP - 163
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -