Sm. Maas et al., Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?, CLIN DYSMOR, 9(1), 2000, pp. 47-53
We report on a boy with an interstitial deletion of the long arm of chromos
ome 2 with breakpoints in chromosome bands q23 and q24.3. Main features wer
e low-set and malformed ears, digital anomalies and congenital heart defect
s, which have also been reported in most of the previously described cases.
A comparison of the features of the present patient with those in previous
ly reported cases suggests the deletion 2q23q24 to be a clinically recogniz
able syndrome. Clin Dysmorphol 9:47-53 (C) 2000 Lippincott Williams & Wilki
ns.