De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland.
We report on a black male child with congenital hypoplasia of the adrenal gland (CHA) with a de novo duplication of 5p [dir dup(5) (p13.3-->p15.1)], confirmed by fluorescence in situ hybridization (FISH). In addition to a characteristic clinical course, the patient has hyperpigmentation (melanoderma) since birth, normal external genitalia, marked elevation of ACTH, and absent response to an IV ACTH challenge. To the best of our knowledge, this is the first case of congenital hypoplasia of the adrenal gland associated with a chromosome abnormality. Reviews of dup (5p) and of our patient suggest that duplication of 5p13.3-pter has only minor phenotypic effect, while duplication of the relatively small critical segment p11-p13.2 apparently causes far more deleterious changes. The concurrence of CHA and dup(5p) in our patient may indicate the possible gene localization of an autosomal form of CHA to either at or near 5p13.3 or 5p15.1.
Chen
H
H
Department of Medical Genetics, University of South Alabama, Mobile 36688, USA.
Hoffman
W H
WH
Kusyk
C J
CJ
Tuck-Muller
C M
CM
Hoffman
M G
MG
Davis
L S
LS
D000311:Adrenal Glands / Q000002:abnormalities*; D000309:Adrenal Insufficiency / Q000235:genetics; D044383:Black People / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007621:Karyotyping; D008297:Male