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A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

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HLADÍLKOVÁ Eva BAROYA Tuva FANNEMELA Madeleine VALLOVÁ Vladimíra MISCEO Doriana BRYND Vesna SLÁMOVÁ Iva PRÁŠILOVÁ Šárka KUGLÍK Petr FRENGEN Eirik

Rok publikování 2015
Druh Článek v odborném periodiku
Časopis / Zdroj MOLECULAR CYTOGENETICS
Fakulta / Pracoviště MU

Přírodovědecká fakulta

Citace
Doi http://dx.doi.org/10.1186/s13039-015-0157-0
Obor Genetika a molekulární biologie
Klíčová slova 2q13 deletion; developmental delay; facial dysmorphism; aCGH; BCL2L11; FBLN7; TMEM87B
Popis We report two unrelated patients with overlapping 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectrum disorder, borderline cognitive abilities, deficits in attention and executive functions and mild dysmorphic facial features. The mother and maternal grandmother of patient 1 were healthy carriers of the deletion. Previously, 2q13 deletions were reported in 27 patients, and the interpretation of its clinical significance varied. Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a challenge for genetic counselling as well as the clinical recognition of 2q13 deletion patients.
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