Inspired by a patient with a 10q26.3 deletion, inherited
from his mother.
Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM,
Davies A, Berg J. Deletion of the distal long arm of chromosome 10; is there a
characteristic phenotype? A report of 15 de novo and familial cases. Am J
Med Genet A. 2003 Dec 1;123A(2):153-63.
Abstract
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 coding
for fibroblast growth factor receptor type 2 (FGFR2) and C-terminal binding
protein 2 (CTBP2).
An incredible resource:
http://www.rarechromo.org/information/Chromosome%2010/10q25%20and%2010q26%20deletions%20FTNW.pdf
Also: https://omim.org/entry/609625#title
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