Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21)

Abstract

A trisomy of the distal long arm of chromosome 15(q21 leads to qter) resulting in similar phenotypic and developmental abnormalities in two related children (a boy and a girl) is described. The chromosome defect was due to malsegregation of a balanced translocation (5;15)(p14;q21) in one of the parents. It was inherited in four generations and accompanied by recurrent miscarriages. Comparison of these patients with four previously published cases of trisomy 15q dist reveals a pattern of common features including: microdolichocephaly with characteristic strikingly protuberant occiput and predominance of the visceral over the cerebral cranium; peculiar facial dysmorphism--narrow antimongoloid palpebral fissures; large, malformed, low-set ears; micrognathy; long philtrum; short neck; cardiopathy; profound encephalopathy with lack of suck and swallow reflexes; and no growth retardation.

Distal 15q trisomy with Dandy-Walker malformation in a female infant

“…As to brain anomalies in distal 15q trisomy, cited only in 4 cases, hydrocephalus is observed in 2 cases at autopsy, but not described in detail (Pederson, 1976;Zergollern et al, 1981;Tzancheva et al, 1981). Our case had severe brain anomalies including hydrocephalus, Dandy-Walker cyst, agenesis of corpus callosum and hypoplasia of temporal operculum.…”

“…More than twenty cases with distal 15q trisomy have been reported so far (Fujimoto et al, 1974;Pederson, 1976;Turleau et al, 1977;Zabel and Baumann, 1977;Coco and Penchaszadeh, 1978;Tzancheva et al, 1981;Gregoire et al, 1981;Yip et al, 1982;Zergollern et al, 1982;Sehnatterty et al, 1984). The remarkable similarity in clinical features between them suggests that distal 15q trisomy is a clinically recognizable syndrome.…”

Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

“…Since the first report of partial 15q trisomy by Fujimoto et al [1974], additional liveborn individuals have been described with duplications of distal 15q, in which the proximal breakpoints ranged from 15q21 to 15q26 [Chandler et al, 1997;Fryns et al, 1988;Garcia-Cruz et al, 1985;Goldstein et al, 1987;Gregoire et al, 1981;Howard-Peebles et al, 1982;Kristoffersson and Bergwall, 1984;Lacro et al, 1987;Pedersen, 1976;Turleau et al, 1977;Tzancheva et al, 1981;Van Allen et al, 1992]. Although most cases are the results of an unbalanced segregation of a familial translocation, implying partial monosomy of other chromosomes, a recurrent pattern of clinical manifestations can be recognized on the basis of the reported data and the published photographs.…”

Mosaicism with a normal cell line and an unbalanced structural rearrangement

“…Clinical features in our patient consistent with this syndrome include Dandy-Walker malformation [Ieshima et al, 1985], hydrocephaly, [Pederson, 1976;Tzancheva et al, 1981;Zergollern et al, 1982], and facial asymmetry [Ieshima, 1985]. Massive hydrocephalus in our patient resulted in severe distortion of the bony plates of the skull and face (Fig.…”