Pericentric inversion and partial monosomy 4q associated with congenital anomalies

Abstract

A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter leads to 16::q24 leads to p16::q32 leads to qter) is reported in an infant with congenital anomalies and psychomotor retardation.

De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2–4q31.1

“…The present case has an interstitial deletion of 4@7-4@8.2, which is the smallest deletion of the long arm of chromosome 4. A case of Serville and Broustet (1977) had a larger deletion and the clinical findings quite differ from those of our case. Comparison of the clinical manifestations in the other 2 cases of 4 q -with those in our case is shown in Table 1.…”

“…Deleted segments of these 3 cases varied: 4q24-4q32 in Serville and Broustet (1977), 4q27-4q31 in Torrado et al (1982) and 4@7-4@1.22 in Mitchell et al (1981). The present case has an interstitial deletion of 4@7-4@8.2, which is the smallest deletion of the long arm of chromosome 4.…”

“…There have been, to our knowledge, only 3 reported cases of an interstitial deletion involving the 4q28 band (Serville and Broustet, 1977;Mitchell et al, 1981;Torrado et al, 1982). The blood group-MN locus has been assigned to 4q28-4q31.1 (Divelbiss et al, 1989).…”

A case of a female infant with terminal deletion of the long arm of No. 4 chromosome.

“…4 chromosome were reported on 23 cases by the several authors (Ockey et al 1967 ;Golbus et al 1973 ;Ferrier and Freund 1974 ;v. Kempen 1975 ;Back et al 1977 ;Serville and Broustet 1977;Frias et al 1978 ;Rethore et al 1979 ;Townes et al 1979 ;Davis et al 1981;Fryns et al 1981;Mitchell et al 1981;Yu et al 1981;Lech et al 1982 ;Lipson et al 1982;Stamberg et al 1982) . Of these, 5 cases had the interstitial deletions of 4q, and 18 cases had the terminal deletions of 4q.…”

“…4 chromosome using the G-bands were reported by several authors (Golbus et al 1973;Ferrier and Freund 1974;v. Kempen 1975;Back et al 1977;Serville and Broustet 1977;Frias et al 1978;Rethore et al 1979;Townes et al 1979;Davis et al 1981;Fryns et al 1981;Mitchell et cal. 1981;Yu et al 1981;Lech et al 1982;Lipson et ai.…”