3q26.33–3q27.2 microdeletion: A new microdeletion syndrome?

An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature

“…The exact etiology of the original Ohdo type 6 and Verloes type has not been established yet. Based on the clinical findings in our patient and the presence of short palpebral fissures or narrow horizontal palpebral fissures in two previously reported 3q26.33‐3q27.2 microdeletion cases, we hypothesize that additional possible candidate gene(s) for blepharophimosis–ID syndrome can be located in the established SRO in 3q27.1‐3q27.2 2, 4.…”

“…Up to now, six cases including the present one of overlapping 3q26.33‐3q27.2 microdeletions have been published 2, 3, 4. All described cases have presented with pre‐ and postnatal growth retardation, ID, hypotonia, dysmorphic facial features, and various teeth abnormalities (Table 1).…”

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

“…Their clinical presentation associated neonatal hypotonia, severe feeding problems, specific facial features, abnormal dentition, recurrent upper airway infections, developmental delay and severe growth impairment 4. The three deletions did not overlap with the cases reported herein.…”

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

“…Another report described 3 unrelated patients with thrombocytopenia and de novo 3q26.33-3q27.2 microdeletions that encompassed THPO. 15 None of these prior reports comment on therapies for these patients.…”