Apparent Opitz BBBG syndrome with a partial duplication of 5p

Abstract

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.

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

“…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]. …”

“…All patients reported, except ours and that of Chen et al [1995], had apparently low-set "dysplastic" ears, while our patient had only a unilateral shallow preauricular *Patients with duplications affecting at least part of band 5p13 and part of bands 5p14-5p15: 1- Brimblecombe et al, 1977;2-Zabel et al, 1978;3-Vowles et al, 1984;4-Kleczkowska et al, 1987;5-Gustavson et al, 1988;6-Rethore' et al, 1989;7-Leichtman et al, 1991;8-Chen et al, 1995;9-Lorda-Sanchez et al, 1997. a Complete dup 5p: number of cases who presented these features out of the following six cases: Leshot and Lim, 1979;Kunze et al, 1980;Carnevale et al, 1982;Orye et al, 1983;Fujita et al, 1994;Zhao et al, 1995. Old cases without GTG bands and those with other possible aberrations in the implicated chromosomes have not been included. Laryngeal cleft, renal pelvic enlargement vesico-uretero-junction reflux, first degree hypospadias, and cryptorchidism were only reported in the patient of Leichtman et al, 1991. pit. Other minor anomalies (upward slanting palpebral fissures, high arched palate, and microretrognathia) may not be as important for defining this phenotype.…”

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

“…Note double hybridization signal (large arrow) indicating duplication. Khodr et al, 1982;Kleczkowska et al, 1987;Leichtman et al, 1991;Lejeune et al, 1964;Webb et al, 1988;Zenger-Hain et al, 1993]. Duplication of 5p14→5pter results in significantly fewer physical anomalies than duplication of a larger portion of 5p, particularly, 5p11→5p13, which results in severe multiple congenital anomalies and mental retardation.…”

“…It has been proposed that the critical region for significant phenotypic changes maps proximal to 5p14 [Chia et al, 1987]. Duplication of the relatively small critical segment 5p11-5p13 apparently causes far more severe anomalies than duplication of other regions of 5p [Kleczkowska et al, 1987;Leichtman et al, 1991].…”

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.…”