PMID- 7762592
OWN - NLM
STAT- MEDLINE
DCOM- 19950626
LR  - 20221207
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 55
IP  - 4
DP  - 1995 Feb 13
TI  - De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland.
PG  - 489-93
AB  - 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.
FAU - Chen, H
AU  - Chen H
AD  - Department of Medical Genetics, University of South Alabama, Mobile 36688, USA.
FAU - Hoffman, W H
AU  - Hoffman WH
FAU - Kusyk, C J
AU  - Kusyk CJ
FAU - Tuck-Muller, C M
AU  - Tuck-Muller CM
FAU - Hoffman, M G
AU  - Hoffman MG
FAU - Davis, L S
AU  - Davis LS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adrenal Glands/*abnormalities
MH  - Adrenal Insufficiency/genetics
MH  - Black People/genetics
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 5
MH  - Humans
MH  - Karyotyping
MH  - Male
RF  - 25
EDAT- 1995/02/13 00:00
MHDA- 1995/02/13 00:01
CRDT- 1995/02/13 00:00
PHST- 1995/02/13 00:00 [pubmed]
PHST- 1995/02/13 00:01 [medline]
PHST- 1995/02/13 00:00 [entrez]
AID - 10.1002/ajmg.1320550419 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Feb 13;55(4):489-93. doi: 10.1002/ajmg.1320550419.