INHERITED INVERTED DUPLICATION OF X-CHROMOSOME IN A MALE - REPORT OF A PATIENT AND REVIEW OF THE LITERATURE

Nineteen cases of duplication of segments of the long arm of chromosom e X have been published in 13 males and in 6 females, We report an add itional case of a male with growth and mental retardation, growth horm one deficiency, compensated primary hypothyroidism, distinctive anomal ies of the face, hypoplastic genitalia, and hypotonia in whom inverted duplication of a segment in the long arm of X chromosome was diagnose d, 46,Y, dup (X)(q21.2q13.3), and mosaicism was demonstrated in his mo ther's X chromosome, The rearranged segment was diagnosed utilizing hi gh resolution G-band technique and FISH studies, using chromosome(TM) X total chromosome probe and DNA XIST probe, This appears to be the fi rst report of a patient with duplication of Xq and hypothyroidism. (C) 1997 Wiley-Liss, Inc.