1989
DOI: 10.1002/ajmg.1320320309
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Secondary trisomy or mosaic “tetrasomy” 8p

Abstract: We report on two patients with mosaic tetrasomy of 8p[46,XY/47,XY,+i(8p)], a previously unreported cytogenetic anomaly. The first patient had a low percentage of tetrasomic (secondary trisomic) cells in lymphocytes and fibroblasts, an only mildly abnormal phenotype, and a rather benign clinical course. The second patient had a considerably larger percentage of tetrasomic cells in lymphocytes and fibroblasts, and had more severe congenital anomalies that led to his death at 8 months. A characteristic phenotype … Show more

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Cited by 23 publications
(23 citation statements)
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“…Vertebral/rib anomalies and deep plantar/palmar creases are frequently seen in mosaic tetrasomy 8p and mosaic trisomy 8, but not inv dup 8p. Our patient had some dermatoglyphic anomalies seen in trisomy 8 [Schaumann et al, 1974;Rodewald et al, 1977] and mosaic tetrasomy 8p [Robinow et al, 1989] patients.…”
Section: Discussionmentioning
confidence: 92%
See 1 more Smart Citation
“…Vertebral/rib anomalies and deep plantar/palmar creases are frequently seen in mosaic tetrasomy 8p and mosaic trisomy 8, but not inv dup 8p. Our patient had some dermatoglyphic anomalies seen in trisomy 8 [Schaumann et al, 1974;Rodewald et al, 1977] and mosaic tetrasomy 8p [Robinow et al, 1989] patients.…”
Section: Discussionmentioning
confidence: 92%
“…
We describe a 5-month-old boy with complex congenital heart defects (dTGA, KEY WORDS: mosaic tetrasomy 8p; trisomy 8; congenital heart malformations INTRODUCTION Mosaic tetrasomy 8p has been reported in 10 patients with multiple congenital anomalies and growth and developmental delay [Kristoffersson et al, 1998;Robinow et al, 1989;Roskes et al, 1990;Newton et al, 1993;Tilstra et al, 1993;Fisher et al, 1993;Schrander-Stumpel et al, 1994;Winters et al, 1995]. All patients with tetrasomy 8p have had mosaicism in peripheral blood and, in those investigated (4 cases), in fibroblasts.
…”
mentioning
confidence: 98%
“…Three patients died within the neonatal period, directly or indirectly as a consequence of complex cardiac defects (Lurie et al, 1995;Winters et al, 1995;López-Pajares et al, 2003). The remaining patient had complete absence of ribs in one hemithorax and succumbed to respiratory failure at 8 months of age (Robinow et al, 1989). It is therefore impossible to comment on mental retardation, motor and speech delay in these five cases.…”
Section: Discussionmentioning
confidence: 94%
“…In the 14 cases described to date (Kristoffersson et al, 1988;Robinow et al, 1989;Fisher et al, 1993;Newton et al, 1993;Tilstra et al, 1993;SchranderStumpel et al, 1994;Lurie et al, 1995;Winters et al, 1995;Napoleone et al, 1997;Le Bris et al, 2003;López-Pajares et al, 2003;Nucaro et al, 2006), defects in multiple organ systems were present, together with developmental delay and mental retardation. Here we describe a boy with agenesis of the corpus callosum (ACC) and subtle facial dysmorphism as the only identifiable features of mosaic tetrasomy 8p.…”
Section: Introductionmentioning
confidence: 94%
“…To our knowledge, only 23 such cases have been reported. They include mosaicism for duplications [Harrod et al, 1980;Cantu and Ruiz, 1986;Serotkin et al, 1988;Blouin et al, 1991;Jewell et al, 1992;Dixon et al, 1993;Gardner et al, 1994], deletions [Wilson and Lin, 1988;Ritter et al, 1990;Patel et al, 1992;D'Alessandro et al, 1992;Finucane et al, 1993;Gordon et al, 1993;Sybert, 1994], insertions [Nielsen et al, 1978], isochromosomes [Robinow et al, 1989;Stanley et al, 1993;Sybert, 1994], and derivative chromosomes [Tsien et al, 1991;Powell et al, 1991;Pelligrino et al, 1995].…”
Section: Discussionmentioning
confidence: 99%