De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland

Abstract

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.

Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome

“…The present case is the smallest proximal duplication reported to date and implies that the critical region for 5p trisomy syndrome lies proximal to band 5p13.3, between 5p10 and 5p13.1. This is also supported by the dissimilar phenotype in the patient reported by Chen et al [1995] in which the duplicated segment starts at 5p13.3. The patient reported by Rethoré et al [1989] resembles the 5p trisomy phenotype, however this patient's duplication as reported (p13.32-p14.3) does not overlap with the duplication in our patient.…”

“…The first description of duplication 5p [Lejeune et al, 1964] was followed by numerous other case reports involving complete and partial duplications. Similar clinical pictures have been found in cases of partial 5p duplications involving the proximal segment [Vowles et al,1984;Kleczkowska et al, 1987;Rethoré et al, 1989;Leichtman et al, 1991], in contrast to patients with duplications of distal 5p [Chia et al,1987;Webb et al, 1988;Zenger-Hain et al,1993;Chen et al, 1995;Harrison et al, 1998]. …”

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome

“…Duplication of part or all of the short arm of chromosome 5 was also reported in several cases and, depending on the specific region involved, results in a clinical phenotype that ranges from minimal to severe [Chen et al, 1995;Chia et al, 1987;Gustavson et al, 1964; FISH analysis with the D5S23 cosmid probe specific for 5p15.2. Note double hybridization signal (large arrow) indicating duplication.…”

“…Since then several other cases have been reported [Chia et al, 1987;Chen et al, 1995;Khodr et al, 1982;Kleczkowska et al, 1987;Webb et al, 1988;ZengerHain et al, 1993]. Most cases were generated by unbalanced segregation products from a constitutional balanced structural rearrangement in a parent.…”

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen

“…Isolated partial trisomy 5p has been reported in a t least eight cases. The four patients with trisomy of the segment p14-pl5 showed a mild phenotype with moderate mental retardation [Chen et al, 1995;Chia et al, 1987;Webb et al, 1988;Zenger-Hain et al, 19931, while those patients with trisomy of a larger segment including 5p13 [Gustavson et al, 1988;Kleczkowska et al, 1987;Leichtman et al, 1991;Rethore et al, 19891 were more severely affected. We are not aware of a case with a trisomy 5p identical to that of our patient.…”