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

Two unrelated cases of single maxillary central incisor with 7q terminal deletion

“…The patients with less deleted material from 7q35~qter resemble quite closely to the phenotype of the patients with monosomy of 7q32--*qter (Kodama et al, 1980;Young et al, 1984). The clinical features, especially facial appearance including SMCI, of our two patients apparently differ from those of the patients with a terminal deletion of 7q distal to q35 (Francke, 1978;Lambert et al, 1981;Turleau et al, 1979;Young et al, 1984).…”

De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

“…Until now, 33 individuals have been reported with a de novo 7q terminal deletion. In most cases, the deletion involved region 7q32→qter [Bernstein et al, 1980 (patient 2); Bogart et al, 1990 (patients 1, 2, 4, and 5);Finley et al, 1993;Friedrich et al, 1979;de Grouchy and Turleau, 1974 (patient 1); Gurrieri et al, 1993 (patient number 336); Harris et al, 1977 (patients 1, 2, 3, and 4); Kodama et al, 1980;Kosseff et al, 1977;Schrander-Stumpel et al, 1988;Schwartz et al, 1983;Young et al, 1984 (patient 1)]. In most (>50%) of the reported patients a pattern of malformations, previously referred to as the 7q terminal deletion syndrome [Harris et al, 1977 and references therein] included the following clinical characteristics: low birth weight (<3rd centile), pre/postnatal growth and developmental retardation, microcephaly, eye anomalies, flat/broad nasal bridge with bulbous nasal tip, abnormal palm/ sole creases, genital abnormalities (in males), and [type alobar and (semi)lobar] HPE.…”

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

“…To our knowledge, 17 terminal deletion patients have been reported, but one of these is described only cursorily in the paper by Kousseff et a1 [1977] and another, a fetus, is not described at all [Bass et al, 19731. Hence, the condition of only 15 terminal del(7q) patients is presented in Table I [de Grouchy et al, 1968;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. Of these, two patients [Francke, 1978;Turleau et al, 19791 have breaks at 7q35; the remainder have deletions of material from 7q32-7qter.…”

“…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.…”