Ring chromosome 4 and wolf syndrome

Abstract

A 5-day-old male child presenting some features of Wolf syndrome is studied. The analysis of his karyotype by usual techniques showed a ring chromosome of B group. This chromosome was presnt in most of the cells examined. By GTG banding it was identified as a No.4 chromosome, the karyotype being: 46,XY,r(4),(p15 leads to q35). The analysis was completed by familial cytogenetic and dermatoglyphic studies.

Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies

“…Several patients with del(4q) and r(4) were found to have limb deficiency [Lurie, 1995;Hou and Wang, 1996]. Some cases of ring chromosome 4 had features of WHS [Perez-Castillo and Abrisqueta, 1977;Del Mazo et al, 1978;Kosztolányi, 1985;Belitz et al, 1991].…”

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.…”

The Wolf‐Hirschhorn syndrome

“…A t the same time, Lejeune et al (1975) and Perez-Castillo & Abrisqueta (1977) showed that a typical clinical picture of the WHS occurs if only the band 4p16 is lost. In most cases the abnormal short arm seems t o be nearly half of the normal length.…”

“…In these cases, despite a small loss of the long arm of chromosome 4, the clinical picture of the WHS was typical ( Hsu et al 1970, Bobrow et al 1971, Sorge et al 1976, Fraisse et al 1977, Perez-Castillo & Abrisqueta 1977, or there were some additional features (reduction of the radius and absent thumbs), presumably due to deletion 4q- (Carter et al 1969, Faed et al 1969, Bofinger et al 1973, del Mazo et al 1978. In these cases, despite a small loss of the long arm of chromosome 4, the clinical picture of the WHS was typical ( Hsu et al 1970, Bobrow et al 1971, Sorge et al 1976, Fraisse et al 1977, Perez-Castillo & Abrisqueta 1977, or there were some additional features (reduction of the radius and absent thumbs), presumably due to deletion 4q- (Carter et al 1969, Faed et al 1969, Bofinger et al 1973, del Mazo et al 1978.…”