Two cases with different deletions of the long arm of chromosome 7.

Abstract

SUMMARY Two mentally and physically retarded girls, one with an interstitial deletion 7(pter--q21 :q32-*qter), and the other with an interstitial deletion 7(pter-+ql 1: :q22-÷qter), are described. (1978) showed a patient with a deletion of the long arm of chromosome 7, which is most likely an interstitial deletion.

A case with a terminal deletion of the long arm of chromosome 7

“…The previously reported cases with partial monosomy 7q can be classified into five groups based on cytogenetie findings: (1) An interstitial deletion 7qll~7q21 or q22 in 6 cases (Valentine and Sergovich, 1977;Seabright and Lewis, 1978;Klepde Pater et al, 1979;Crawfurd et al, 1979), (2) An interstitial deletion 7q21~7q31 or q32 in 4 cases (Ayraud et al, 1976;Higginson et al, 1976;Franceschini et al, 1978;Klep-de Pater et al, 1979), (3) A terminal deletion 7q32---~7qter in 10 cases (de Grouchy et al, 1968(de Grouchy et al, , 1974Shokeir et al, 1973;Harris et al, 1977;Kousseff et al, 1977;Biederman and Bowen, 1978;Bernstein et al, 1980), (4) An interstitial deletion 7q32---,7q34 in 3 related cases (Nielsen et al, 1979) (The possibility that the interstitial deletion involved the segment 7q32---~q36 was also suggested by the authors. ), and (5)A terminal deletion 7q35~7qter in 2 cases (Francke, 1978;Turleau et al, 1979).…”

Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

“…Of the 17 reported cases of interstitial 7q deletions, 6 lack bands 7qll-21 or q22 [Crawfurd et al, 1979;Gibson et al, 1982;Klep-de-Pater et al, 1979;Seabright and Lewis, 1978;Valentine and Sergovich, 19771, 7 are monosomic for regions 7q21 +q31 or q32 [Ayraud et al, 1976;Dennis et al, 1977;Franceschini et al, 1978;Higginson et al, 1978;Johnson et al, 1978;Klep-de-Pater et al, 1979;Serup, 19801, and 4 are missing segment 7q31-+q34 [Nielsen et al, 1979;Stallard and Juberg, 19811.…”

“…However, subsequent studies using R-and G-banding [de Grouchy et al, 19741 showed that the defect involved a nonreciprocal translocation from chromosome 6 to 7, effectively making the patient monosomic for the region distal to 7q32. Since that first report, another 32 cases of del (7q) have been described, including 15 terminal deletions [Bass et al, 1973;Bernstein et al, 1980;Biederman and Bowen, 1978;Francke, 1978;Friedrich et al, 1979;Harris et al, 1977;Kodama et al, 1980;Kousseff et al, 1977;Shokeir et al, 1973;Taysi et al, 1982;Turleau et al, 19791 and 17 interstitial deletions [Ayraud et al, 1976;Crawfurd et al, 1979;Dennis et al, 1977;Franceschini et al, 1978;Gibson et al, 1982;Higginson et al, 1976;Johnson et al, 1978;Klep-de-Pater et al, 1979;Nielsen et al, 1979;Seabright and Lewis, 1978;Serup, 1980;Stallard and Juberg, 1981;Valentine and Sergovich, 19771. Three patients with a ring 7 chromosome [Nakano and Miyamoto, 1977;Zackai and Breg, 19731 and one with a 7q terminal deletion associated with trisomy 9p [Turleau et al, 19741 have also been reported but are not included in our review of the dysmorphogenetic effects of del (7q) (Table I) because they are aneusomic for segments of the genome other than 7q and therefore do not represent pure 7q monosomy.…”

Interstitial 7q deletion [46,XX,del(7)(pter → q21.1::q22 → qter)] and the location of genes for β‐glucuronidase and cystic fibrosis

“…Seven cases with interstitial deletions of 7q that include the segment q21+q22 have been reported [Ayraud et al, 1976;Higginson et al, 1976;Valentine and Sergovich, 1977;Johnson et al, 1978;Klep-de Pater et al, 1979;Pfeiffer, 1984;Young et al, 19841, but in only 3 of these is the deleted segment limited to 7q21 +q22 [Johnson et al, 1978;Young et al, 19841. A comparison of the manifestations in these 2 patients and ours (Table 11) shows some unspecific consistent findings like microcephaly, mental retardation, ear malformations, and high palate.…”