Partial deletion of 4p16 band in a ring chromosome and wolf syndrome

Abstract

A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16 leads to q35) was determined. The characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome, are compared with previous reports.

Ring chromosome 4 in a child with mild dysmorphic signs

“…As expected, the various malformations associated with ring chromosomes 4 depend on the size of the terminal segments deleted (Carter et al 1969, Chavin-Colin et al 1977, Del Mazo et al 1978, Finley et al 1981, Fraisse et al 1977, Fryns t t al. 1988, Grace 1984, Kosztolany 1987, McDermott et al 1977, Niss & Passarge 1975, Parker et al 1974, Perez-Castillo 8c Abrisqueta 1977, Su- rana et al 1971).…”

“…Ring formation of chromosome 4 has been described in several cases, with various clinical findings depending on the amount of genetic material lost in the ring (Chavin-Colin et al 1977, Finley et al 1981, McDermott et al 1977, Niss & Passarge 1975, Surana et al 1971, Carter et al 1969, Fraisse et al 1977, Del Mazo et al 1978, Parker et al 1974, Perez-Castillo & Abrisqueta 1977, Hecht 1969.…”

De novo del(4) (p15.32) with incomplete expression of the Wolf‐Hirschhorn syndrome

“…Forty WHS cases from the literature with breakpoint identification were reviewed (Table 1). Interestingly, 4p16 deletions and/ or breakpoints associated with WHS have only been observed in rings and translocations (Rolland et al 1977, Bourouillou et al 1978, Carlin & Norman 1978, del Mazo et al 1978, Stoll et al 1981, Curry et al 1982, Narahara et al 1984. Both types of anomalies are not suitable for a confident syndrome delineation (due to the inherent instability of the former and the concomitant unbalances in the latter), and may lead to an unprecise band identification.…”

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

“…In the literature cited in this paper, 5 of the 17 reviewed reports on ring chromosome 4 have presented their case as WHS [11, 12, 15, 16, 24]. Table 2 shows the clinical features of WHS which were found in common in the present case and in previously reported cases of ring chromosome 4.…”

“…Although dysmorphic facial features were observed in majority of the cases, the characteristic “Greek warrior helmet” profile with prominent glabella was observed in only two cases [11, 23]. Even though seizures and hypotonia are described as customary features of WHS, seizures were reported in only two cases [11, 13] and hypotonia was reported in another two cases with ring chromosome 4 [15, 16]. These findings suggest that the phenotypic spectrum of patients with ring chromosome 4 does not always conform to the consensus phenotype of WHS.…”