1975
DOI: 10.1136/jmg.12.1.99
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Deletion of the short arm of chromosome No. 10.

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Cited by 28 publications
(13 citation statements)
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“…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.…”
Section: Introductionmentioning
confidence: 97%
See 1 more Smart Citation
“…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.…”
Section: Introductionmentioning
confidence: 97%
“…Using deletion mapping, Shokeir et al [1973] suggested that the Kidd blood group locus was distal to 7q32. They based this supposition on the observation that the patient they reported had Jka type blood, despite the fact that her parents were homozygous JkaJka and JkbJbb.…”
Section: Introductionmentioning
confidence: 99%
“…10 had been first reported by Elliott et al, since then 6 more cases were submitted (Elliott et al, 1970;Francke et al, 1975;Shokeir et al, 1975;Berger et at., 1977;Prieto et al, 1978;Bourrouillou et aL, 1981 ;Fryns et al, 1981). This paper describes another case monosomic for a distal segment of the short arm of No.…”
Section: Introductionmentioning
confidence: 99%
“…As Elliott et at. (1970), Shokeir et al (1975) and Berger et al (1977 reported death of their cases in the neonatal or infantile period, careful management is required for children with a deletion of the short arm of chromosome No. 10.…”
Section: Case Reportmentioning
confidence: 99%
“…Despite intensive cardiac therapy, the congenital heart defect led to acute heart and respiratory failure, resulting in the death of the child on the 17th day of life. Cytogenetic examination revealed a terminal deletion in the chromosome 10 short arms with a break in band lOpi 3 (fig 3c).…”
mentioning
confidence: 99%