Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.
نویسندگان
چکیده
A patient with a deletion (13)(q21.3q31) showed only eczema and absent suck and swallowing reflex, in contrast to other well documented cases with a similar deletion. Apparently there is wide clinical variability in patients with deletions in this area.
منابع مشابه
Interstitial deletion of chromosome 13: prognosis and adult phenotype.
A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in childhood with subsequent dyspepsia. The dysmorphic features did not become evident until later ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 24 12 شماره
صفحات -
تاریخ انتشار 1987