[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].
A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D004950:Esterases / Q000235:genetics*; D006130:Growth Disorders / Q000150:complications; D006257:Head / Q000002:abnormalities; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000150:complications; D011596:Psychomotor Disorders / Q000150:complications
D004950:Esterases
Del (13) (q33). Exclusion de estérase D (ESD) de 13q33 et q34.