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 chromosome X have been published in 13 males and in 6 females. We report an additional case of a male with growth and mental retardation, growth hormone deficiency, compensated primary hypothyroidism, distinctive anomalies of the face, hypoplastic genitalia, and hypotonia in whom inverted duplication of a segment in the long arm of X chromosome was diagnosed, 46,Y, dup (X)(q21.2q13.3), and mosaicism was demonstrated in his mother's X chromosome. The rearranged segment was diagnosed utilizing high resolution G-band technique and FISH studies, using chromosome X total chromosome probe and DNA XIST probe. This appears to be the first report of a patient with duplication of Xq and hypothyroidism.
Shapira
M
M
Maccabi Clinic/Pediatrics, Neve Shaanan, Haifa, Israel.
Dar
H
H
Bar-El
H
H
Bar-Nitzan
N
N
Even
L
L
Borochowitz
Z
Z
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D019066:Facies; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D013577:Syndrome; D014960:X Chromosome