Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.
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.
Department of Paediatrics, St Clara Hospital, Rotterdam, The Netherlands.
P J
PJ
Peet
R R
RR
Pereira
J O
JO
Van Hemel
A J
AJ
Hoogeboom
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D004485:Eczema / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D012021:Reflex, Abnormal / Q000235:genetics*