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Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32→13qter
Author(s) -
Telfer M. A.,
Clark C. E.,
Casey P. A.,
Cowell H. R.,
Stroud H. H.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00175.x
Subject(s) - hypertelorism , microcephaly , monosomy , karyotype , biology , ptosis , anatomy , genetics , locus (genetics) , endocrinology , chromosome , gene , pharmacology
A de novo partial 13q monosomy is reported in a severely affected 8–year‐old female with the karyotype 46 , XX, del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs, scoliosis and clubfeet. The deletion was demonstrable by R‐banding but was not apparent by GTG banding. The locus for esterase D (EC 3.1.1.1) is excluded from the deleted segment 13q32→13qter.