Deletions of different segments of the long arm of chromosome 4

Abstract

We report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a horter terminal deletion, ie, 4q33 leads to qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal-deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1 leads to q25, 4q21.3 leads to q26, and 4q27 leads to q31.3. The phenotypic expression noted in these patients is variable in differs from the 4q terminal-deletion syndrome.

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

“…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.…”

“…An interstitial deletion of the middle portion of 4q involving the 4q28 band has been reported only in 3 cases (Servilleand Broustet, 1977;Torrado et al, 1982;Mitchell et al, 1981). 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).…”

“…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 were divided into two groups which were the interstitial deletion and the terminal deletion ( Table I) . On the interstitial deletion, it was reported on 5 cases : One case with the deleted segment of q12-->q21 (tech et al 1982), one case of q21--~q25 (Mitchell et al 1981), one case of q21--~q26 (Mitchell et al 1981), one case of q24-q32 (Serville and Broustet, 1977), and one case of q27-q31 (Mitchell et al 1981) . On the terminal deletion, it was reported on 19 cases : 15 cases with the deleted segment of q3--*gter or q31-gter (Ockey et al 1967 ;Golbus et al 1973;Ferrier et al 1974;v.…”