TY - JOUR
T1 - A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions.
AU - Baynam, Gareth
AU - Goldblatt, Jack
AU - Townshend, S.
PY - 2006
Y1 - 2006
N2 - A further case of 3q29 deletion, in a 13-year-old boy, is described and compared with previous reports. Our case shares a number of dysmorphic and neurodevelopmental features with previously reported individuals with 3q29 microdeletion and is the second reported case with deceleration in head growth - which may be a useful diagnostic clue. Novel features, which may expand the phenotype, include nasal voice, six lumbar vertebrae, lower limb contractures and cerebral sigmoid venous thrombosis. Additionally, cases with cytogenetically visible terminal 3q deletions are reviewed.
AB - A further case of 3q29 deletion, in a 13-year-old boy, is described and compared with previous reports. Our case shares a number of dysmorphic and neurodevelopmental features with previously reported individuals with 3q29 microdeletion and is the second reported case with deceleration in head growth - which may be a useful diagnostic clue. Novel features, which may expand the phenotype, include nasal voice, six lumbar vertebrae, lower limb contractures and cerebral sigmoid venous thrombosis. Additionally, cases with cytogenetically visible terminal 3q deletions are reviewed.
U2 - 10.1097/01.mcd.0000198934.55071.ee
DO - 10.1097/01.mcd.0000198934.55071.ee
M3 - Review article
C2 - 16760732
VL - 15
SP - 145
EP - 148
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
SN - 0962-8827
IS - 3
ER -